| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.810 | CausalMutation | CLINVAR | ||||||
|
T | 0.800 | CausalMutation | CLINVAR | ||||||
|
A | 0.800 | CausalMutation | CLINVAR | ||||||
|
C | 0.800 | CausalMutation | CLINVAR | ||||||
|
G | 0.800 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | G protein-coupled receptor-dependent development of human frontal cortex. | 15044805 | 2004 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
ATT | 0.700 | CausalMutation | CLINVAR | ||||||
|
0.810 | GeneticVariation | UNIPROT | Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes. | 16240336 | 2005 |
||||
|
0.810 | GeneticVariation | UNIPROT | Mechanism for adhesion G protein-coupled receptor GPR56-mediated RhoA activation induced by collagen III stimulation. | 24949629 | 2014 |
||||
|
0.810 | GeneticVariation | UNIPROT | Disease-associated GPR56 mutations cause bilateral frontoparietal polymicrogyria via multiple mechanisms. | 21349848 | 2011 |
||||
|
0.810 | GeneticVariation | UNIPROT | A novel GPR56 mutation causes bilateral frontoparietal polymicrogyria. | 21723461 | 2011 |
||||
|
0.810 | GeneticVariation | BEFREE | Given that N-terminal truncation of G1 and other adhesion G protein-coupled receptors has been shown to significantly increase the receptors' constitutive signaling, we examined two different bilateral frontoparietal polymicrogyria-inducing extracellular loop mutations (R565W and L640R) in the context of both full-length and N-terminally truncated (ΔNT) G1. | 28424266 | 2017 |
||||
|
0.810 | GeneticVariation | UNIPROT | G protein-coupled receptor-dependent development of human frontal cortex. | 15044805 | 2004 |