Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
Movement Disorders
|
0.700 | CausalMutation | CLINVAR | Glut1 deficiency syndrome: Absence epilepsy and La Soupe du Jour. | 26336901 | 2016 | |||||
Overgrowth
|
0.700 | CausalMutation | CLINVAR | Glut1 deficiency syndrome: Absence epilepsy and La Soupe du Jour. | 26336901 | 2016 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Glut1 deficiency syndrome: Absence epilepsy and La Soupe du Jour. | 26336901 | 2016 | |||||
Overgrowth
|
0.700 | CausalMutation | CLINVAR | The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome. | 26537434 | 2015 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Mutational and functional analysis of Glucose transporter I deficiency syndrome. | 26304067 | 2015 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | From splitting GLUT1 deficiency syndromes to overlapping phenotypes. | 26193382 | 2015 | |||||
Movement Disorders
|
0.700 | CausalMutation | CLINVAR | From splitting GLUT1 deficiency syndromes to overlapping phenotypes. | 26193382 | 2015 | |||||
Movement Disorders
|
0.700 | CausalMutation | CLINVAR | The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome. | 26537434 | 2015 | |||||
Overgrowth
|
0.700 | CausalMutation | CLINVAR | From splitting GLUT1 deficiency syndromes to overlapping phenotypes. | 26193382 | 2015 | |||||
Overgrowth
|
0.700 | CausalMutation | CLINVAR | Mutational and functional analysis of Glucose transporter I deficiency syndrome. | 26304067 | 2015 | |||||
Movement Disorders
|
0.700 | CausalMutation | CLINVAR | The clinical and genetic heterogeneity of paroxysmal dyskinesias. | 26598494 | 2015 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | The clinical and genetic heterogeneity of paroxysmal dyskinesias. | 26598494 | 2015 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome. | 26537434 | 2015 | |||||
Overgrowth
|
0.700 | CausalMutation | CLINVAR | The clinical and genetic heterogeneity of paroxysmal dyskinesias. | 26598494 | 2015 | |||||
Movement Disorders
|
0.700 | CausalMutation | CLINVAR | Mutational and functional analysis of Glucose transporter I deficiency syndrome. | 26304067 | 2015 | |||||
Overgrowth
|
0.700 | CausalMutation | CLINVAR | Paroxysmal dyskinesias revisited: a review of 500 genetically proven cases and a new classification. | 24963779 | 2014 | |||||
Movement Disorders
|
0.700 | CausalMutation | CLINVAR | Paroxysmal dyskinesias revisited: a review of 500 genetically proven cases and a new classification. | 24963779 | 2014 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Paroxysmal dyskinesias revisited: a review of 500 genetically proven cases and a new classification. | 24963779 | 2014 | |||||
Movement Disorders
|
0.700 | CausalMutation | CLINVAR | Phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS). | 23443458 | 2013 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | The role of SLC2A1 in early onset and childhood absence epilepsies. | 23306390 | 2013 | |||||
Overgrowth
|
0.700 | CausalMutation | CLINVAR | The role of SLC2A1 in early onset and childhood absence epilepsies. | 23306390 | 2013 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS). | 23443458 | 2013 | |||||
Movement Disorders
|
0.700 | CausalMutation | CLINVAR | The role of SLC2A1 in early onset and childhood absence epilepsies. | 23306390 | 2013 | |||||
Overgrowth
|
0.700 | CausalMutation | CLINVAR | Phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS). | 23443458 | 2013 | |||||
Overgrowth
|
0.700 | CausalMutation | CLINVAR | Glucose transporter 1 deficiency in the idiopathic generalized epilepsies. | 23280796 | 2012 |