rs763220502
×
Entrez Id:
81031
Gene Symbol:
SLC2A10
SLC2A10
ARTERIAL TORTUOSITY SYNDROME
A
0.800
CausalMutation
CLINVAR
GLUT10 deficiency leads to oxidative stress and non-canonical αvβ3 integrin-mediated TGFβ signalling associated with extracellular matrix disarray in arterial tortuosity syndrome skin fibroblasts.
26376865
2015
rs121908172
×
Entrez Id:
81031
Gene Symbol:
SLC2A10
SLC2A10
ARTERIAL TORTUOSITY SYNDROME
0.800
GeneticVariation
UNIPROT
2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology (ESC).
25173340
2014
rs564317065
×
Entrez Id:
81031
Gene Symbol:
SLC2A10
SLC2A10
ARTERIAL TORTUOSITY SYNDROME
0.800
GeneticVariation
UNIPROT
2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology (ESC).
25173340
2014
rs753723351
×
Entrez Id:
81031
Gene Symbol:
SLC2A10
SLC2A10
ARTERIAL TORTUOSITY SYNDROME
0.800
GeneticVariation
UNIPROT
2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology (ESC).
25173340
2014
rs763220502
×
Entrez Id:
81031
Gene Symbol:
SLC2A10
SLC2A10
ARTERIAL TORTUOSITY SYNDROME
A
0.800
CausalMutation
CLINVAR
Arterial Tortuosity Syndrome: homozygosity for two novel and one recurrent SLC2A10 missense mutations in three families with severe cardiopulmonary complications in infancy and a literature review.
25373504
2014
rs763220502
×
Entrez Id:
81031
Gene Symbol:
SLC2A10
SLC2A10
ARTERIAL TORTUOSITY SYNDROME
0.800
GeneticVariation
UNIPROT
2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology (ESC).
25173340
2014
rs864309480
×
Entrez Id:
81031
Gene Symbol:
SLC2A10
SLC2A10
ARTERIAL TORTUOSITY SYNDROME
0.800
GeneticVariation
UNIPROT
2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology (ESC).
25173340
2014
rs771028960
×
Entrez Id:
81031
Gene Symbol:
SLC2A10
SLC2A10
ARTERIAL TORTUOSITY SYNDROME
A
0.800
GeneticVariation
CLINVAR
Artery tortuosity syndrome exhibiting early-onset emphysema with novel compound heterozygous SLC2A10 mutations.
23494979
2013
rs771028960
×
Entrez Id:
81031
Gene Symbol:
SLC2A10
SLC2A10
ARTERIAL TORTUOSITY SYNDROME
A
0.800
CausalMutation
CLINVAR
Artery tortuosity syndrome exhibiting early-onset emphysema with novel compound heterozygous SLC2A10 mutations.
23494979
2013
rs121908172
×
Entrez Id:
81031
Gene Symbol:
SLC2A10
SLC2A10
ARTERIAL TORTUOSITY SYNDROME
0.800
GeneticVariation
UNIPROT
Evaluation of the adolescent or adult with some features of Marfan syndrome.
22237449
2012
rs564317065
×
Entrez Id:
81031
Gene Symbol:
SLC2A10
SLC2A10
ARTERIAL TORTUOSITY SYNDROME
0.800
GeneticVariation
UNIPROT
Evaluation of the adolescent or adult with some features of Marfan syndrome.
22237449
2012
rs753723351
×
Entrez Id:
81031
Gene Symbol:
SLC2A10
SLC2A10
ARTERIAL TORTUOSITY SYNDROME
0.800
GeneticVariation
UNIPROT
Evaluation of the adolescent or adult with some features of Marfan syndrome.
22237449
2012
rs763220502
×
Entrez Id:
81031
Gene Symbol:
SLC2A10
SLC2A10
ARTERIAL TORTUOSITY SYNDROME
0.800
GeneticVariation
UNIPROT
Evaluation of the adolescent or adult with some features of Marfan syndrome.
22237449
2012
rs864309480
×
Entrez Id:
81031
Gene Symbol:
SLC2A10
SLC2A10
ARTERIAL TORTUOSITY SYNDROME
0.800
GeneticVariation
UNIPROT
Evaluation of the adolescent or adult with some features of Marfan syndrome.
22237449
2012
rs80358230
×
Entrez Id:
81031
Gene Symbol:
SLC2A10
SLC2A10
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
rs121908172
×
Entrez Id:
81031
Gene Symbol:
SLC2A10
SLC2A10
ARTERIAL TORTUOSITY SYNDROME
0.800
GeneticVariation
UNIPROT
Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families.
17935213
2008
rs121908172
×
Entrez Id:
81031
Gene Symbol:
SLC2A10
SLC2A10
ARTERIAL TORTUOSITY SYNDROME
T
0.800
CausalMutation
CLINVAR
Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families.
17935213
2008
rs564317065
×
Entrez Id:
81031
Gene Symbol:
SLC2A10
SLC2A10
ARTERIAL TORTUOSITY SYNDROME
0.800
GeneticVariation
UNIPROT
Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families.
17935213
2008
rs564317065
×
Entrez Id:
81031
Gene Symbol:
SLC2A10
SLC2A10
ARTERIAL TORTUOSITY SYNDROME
A
0.800
CausalMutation
CLINVAR
Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families.
17935213
2008
rs753723351
×
Entrez Id:
81031
Gene Symbol:
SLC2A10
SLC2A10
ARTERIAL TORTUOSITY SYNDROME
A
0.800
CausalMutation
CLINVAR
Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families.
17935213
2008
rs763220502
×
Entrez Id:
81031
Gene Symbol:
SLC2A10
SLC2A10
ARTERIAL TORTUOSITY SYNDROME
0.800
GeneticVariation
UNIPROT
Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families.
17935213
2008
rs763220502
×
Entrez Id:
81031
Gene Symbol:
SLC2A10
SLC2A10
ARTERIAL TORTUOSITY SYNDROME
A
0.800
CausalMutation
CLINVAR
Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families.
17935213
2008
rs771028960
×
Entrez Id:
81031
Gene Symbol:
SLC2A10
SLC2A10
ARTERIAL TORTUOSITY SYNDROME
A
0.800
GeneticVariation
CLINVAR
Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families.
17935213
2008
rs771028960
×
Entrez Id:
81031
Gene Symbol:
SLC2A10
SLC2A10
ARTERIAL TORTUOSITY SYNDROME
0.800
GeneticVariation
UNIPROT
Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families.
17935213
2008
rs771028960
×
Entrez Id:
81031
Gene Symbol:
SLC2A10
SLC2A10
ARTERIAL TORTUOSITY SYNDROME
A
0.800
CausalMutation
CLINVAR
Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families.
17935213
2008