| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.800 | CausalMutation | CLINVAR | Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1. | 19798636 | 2009 |
|||
|
A | 0.800 | CausalMutation | CLINVAR | Disease-associated Glut1 single amino acid substitute mutations S66F, R126C, and T295M constitute Glut1-deficiency states in vitro. | 17052934 | 2007 |
|||
|
A | 0.800 | CausalMutation | CLINVAR | Imaging the metabolic footprint of Glut1 deficiency on the brain. | 12325075 | 2002 |
|||
|
T | 0.800 | GeneticVariation | CLINVAR | ||||||
|
A | 0.800 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | Nationwide survey of glucose transporter-1 deficiency syndrome (GLUT-1DS) in Japan. | 25487684 | 2015 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | Clinical utility of genetic testing in pediatric drug-resistant epilepsy: a pilot study. | 25108116 | 2014 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | Unusual sensitivity to steroid treatment in intractable childhood epilepsy suggests GLUT1 deficiency syndrome. | 22976442 | 2012 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy. | 21555602 | 2011 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Mutational analysis of GLUT1 (SLC2A1) in Glut-1 deficiency syndrome. | 10980529 | 2000 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
GT | 0.700 | CausalMutation | CLINVAR | ||||||
|
CT | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR |