Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 81031
Gene Symbol: SLC2A10
SLC2A10
CUI: C1859726
Disease: ARTERIAL TORTUOSITY SYNDROME
ARTERIAL TORTUOSITY SYNDROME 		0.800 GermlineCausalMutation ORPHANET In ATS, loss of GLUT10 results in defective collagen and/or elastin. 20547159

2010
Entrez Id: 81031
Gene Symbol: SLC2A10
SLC2A10
CUI: C1859726
Disease: ARTERIAL TORTUOSITY SYNDROME
ARTERIAL TORTUOSITY SYNDROME 		0.800 GermlineCausalMutation ORPHANET As such, overt diabetes is not related to SLC2A10 mutations associated with ATS. 17935213

2008
Entrez Id: 81031
Gene Symbol: SLC2A10
SLC2A10
CUI: C1859726
Disease: ARTERIAL TORTUOSITY SYNDROME
ARTERIAL TORTUOSITY SYNDROME 		0.800 GermlineCausalMutation 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