Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs556518689
rs556518689
ADGRG1
0.710 GeneticVariation UNIPROT Mechanism for adhesion G protein-coupled receptor GPR56-mediated RhoA activation induced by collagen III stimulation. 24949629

2014
dbSNP: rs556518689
rs556518689
ADGRG1
0.710 GeneticVariation UNIPROT Disease-associated mutations prevent GPR56-collagen III interaction. 22238662

2012
dbSNP: rs556518689
rs556518689
ADGRG1
0.710 GeneticVariation UNIPROT Here we report a novel missense mutation of GPR56, E496K, identified in a consanguineous pedigree with bilateral frontoparietal polymicrogyria. 21723461

2011
dbSNP: rs556518689
rs556518689
ADGRG1
0.710 GeneticVariation UNIPROT Disease-associated GPR56 mutations cause bilateral frontoparietal polymicrogyria via multiple mechanisms. 21349848

2011
dbSNP: rs556518689
rs556518689
ADGRG1
0.710 GeneticVariation BEFREE Here we report a novel missense mutation of GPR56, E496K, identified in a consanguineous pedigree with bilateral frontoparietal polymicrogyria. 21723461

2011
dbSNP: rs556518689
rs556518689
ADGRG1
0.710 GeneticVariation UNIPROT Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes. 16240336

2005
dbSNP: rs556518689
rs556518689
ADGRG1
0.710 GeneticVariation UNIPROT G protein-coupled receptor-dependent development of human frontal cortex. 15044805

2004