Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
Abnormality of coordination
|
0.700 | CausalMutation | CLINVAR | ||||||||
Anxiety
|
0.700 | CausalMutation | CLINVAR | ||||||||
Basal ganglia calcification
|
0.700 | CausalMutation | CLINVAR | ||||||||
Brisk reflexes
|
0.700 | CausalMutation | CLINVAR | ||||||||
Idiopathic basal ganglia calcification 1
|
0.800 | GeneticVariation | UNIPROT | Novel SLC20A2 mutations identified in southern Chinese patients with idiopathic basal ganglia calcification. | 23939468 | 2013 | |||||
Idiopathic basal ganglia calcification 1
|
0.800 | GeneticVariation | UNIPROT | Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification. | 24065723 | 2013 | |||||
Idiopathic basal ganglia calcification 1
|
0.800 | GeneticVariation | CLINVAR | Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis. | 22327515 | 2012 | |||||
Idiopathic basal ganglia calcification 1
|
0.800 | GeneticVariation | UNIPROT | Reporting a new mutation at the SLC20A2 gene in familial idiopathic basal ganglia calcification. | 23406454 | 2013 | |||||
Idiopathic basal ganglia calcification 1
|
0.800 | CausalMutation | CLINVAR | ||||||||
Idiopathic basal ganglia calcification 1
|
0.800 | GeneticVariation | UNIPROT | Primary familial brain calcification: Genetic analysis and clinical spectrum. | 25284758 | 2014 | |||||
Idiopathic basal ganglia calcification 1
|
0.800 | CausalMutation | CLINVAR | ||||||||
Idiopathic basal ganglia calcification 1
|
0.800 | GeneticVariation | UNIPROT | Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis. | 22327515 | 2012 | |||||
Idiopathic basal ganglia calcification 1
|
0.800 | GeneticVariation | UNIPROT | Evaluation of SLC20A2 mutations that cause idiopathic basal ganglia calcification in Japan. | 24463626 | 2014 | |||||
Idiopathic basal ganglia calcification 1
|
0.800 | GeneticVariation | UNIPROT | Evolutionary and experimental analyses of inorganic phosphate transporter PiT family reveals two related signature sequences harboring highly conserved aspartic acids critical for sodium-dependent phosphate transport function of human PiT2. | 15955065 | 2005 | |||||
Idiopathic basal ganglia calcification 1
|
0.800 | GeneticVariation | UNIPROT | Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification. | 23334463 | 2013 | |||||
Jaw pain
|
0.700 | CausalMutation | CLINVAR | ||||||||
Obsessive compulsive behavior
|
0.700 | CausalMutation | CLINVAR |