SLC2A10, solute carrier family 2 member 10, 81031

N. diseases: 135; N. variants: 22
Disease: ARTERIAL TORTUOSITY SYNDROME ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80358230
rs80358230
Entrez Id: 81031
Gene Symbol: SLC2A10
SLC2A10
CUI: C1859726
Disease:
ARTERIAL TORTUOSITY SYNDROME 		G 0.800 CausalMutation CLINVAR A novel missense and a recurrent mutation in SLC2A10 gene of patients affected with arterial tortuosity syndrome. 18774132 2009
dbSNP: rs80358230
rs80358230
Entrez Id: 81031
Gene Symbol: SLC2A10
SLC2A10
CUI: C1859726
Disease:
ARTERIAL TORTUOSITY SYNDROME 		0.800 GeneticVariation UNIPROT Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families. 17935213 2008
dbSNP: rs80358230
rs80358230
Entrez Id: 81031
Gene Symbol: SLC2A10
SLC2A10
CUI: C1859726
Disease:
ARTERIAL TORTUOSITY SYNDROME 		G 0.800 CausalMutation CLINVAR Identification of a p.Ser81Arg encoding mutation in SLC2A10 gene of arterial tortuosity syndrome patients from 10 Qatari families. 18565096 2008
dbSNP: rs80358230
rs80358230
Entrez Id: 81031
Gene Symbol: SLC2A10
SLC2A10
CUI: C1859726
Disease:
ARTERIAL TORTUOSITY SYNDROME 		G 0.800 CausalMutation CLINVAR Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome. 16550171 2006
dbSNP: rs80358230
rs80358230
Entrez Id: 81031
Gene Symbol: SLC2A10
SLC2A10
CUI: C1859726
Disease:
ARTERIAL TORTUOSITY SYNDROME 		0.800 GeneticVariation UNIPROT Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome. 16550171 2006
dbSNP: rs80358230
rs80358230
Entrez Id: 81031
Gene Symbol: SLC2A10
SLC2A10
CUI: C1859726
Disease:
ARTERIAL TORTUOSITY SYNDROME 		G 0.800 GeneticVariation CLINVAR