Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908466
rs121908466
ADGRG1
0.800 GeneticVariation UNIPROT G protein-coupled receptor-dependent development of human frontal cortex. 15044805

2004
dbSNP: rs121908466
rs121908466
ADGRG1
0.800 GeneticVariation UNIPROT Disease-associated mutations prevent GPR56-collagen III interaction. 22238662

2012
dbSNP: rs121908466
rs121908466
ADGRG1
0.800 GeneticVariation UNIPROT Mechanism for adhesion G protein-coupled receptor GPR56-mediated RhoA activation induced by collagen III stimulation. 24949629

2014
dbSNP: rs121908466
rs121908466
ADGRG1
0.800 GeneticVariation UNIPROT Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes. 16240336

2005
dbSNP: rs121908466
rs121908466
ADGRG1
0.800 GeneticVariation UNIPROT A novel GPR56 mutation causes bilateral frontoparietal polymicrogyria. 21723461

2011
dbSNP: rs121908466
rs121908466
ADGRG1
0.800 GeneticVariation UNIPROT Disease-associated GPR56 mutations cause bilateral frontoparietal polymicrogyria via multiple mechanisms. 21349848

2011
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 Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes. 16240336

2005
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 G protein-coupled receptor-dependent development of human frontal cortex. 15044805

2004
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: rs532188689
rs532188689
ADGRG1
C 0.700 GeneticVariation CLINVAR

dbSNP: rs587783654
rs587783654
ADGRG1
C 0.700 GeneticVariation CLINVAR

dbSNP: rs587783656
rs587783656
ADGRG1
C 0.700 GeneticVariation CLINVAR

dbSNP: rs764367185
rs764367185
ADGRG1
0.700 GeneticVariation UNIPROT Disease-associated GPR56 mutations cause bilateral frontoparietal polymicrogyria via multiple mechanisms. 21349848

2011
dbSNP: rs764367185
rs764367185
ADGRG1
0.700 GeneticVariation UNIPROT Mechanism for adhesion G protein-coupled receptor GPR56-mediated RhoA activation induced by collagen III stimulation. 24949629

2014
dbSNP: rs764367185
rs764367185
ADGRG1
0.700 GeneticVariation UNIPROT G protein-coupled receptor-dependent development of human frontal cortex. 15044805

2004
dbSNP: rs764367185
rs764367185
ADGRG1
0.700 GeneticVariation UNIPROT Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes. 16240336

2005
dbSNP: rs764367185
rs764367185
ADGRG1
0.700 GeneticVariation UNIPROT Disease-associated mutations prevent GPR56-collagen III interaction. 22238662

2012
dbSNP: rs764367185
rs764367185
ADGRG1
0.700 GeneticVariation UNIPROT A novel GPR56 mutation causes bilateral frontoparietal polymicrogyria. 21723461

2011
dbSNP: rs768441855
rs768441855
ADGRG1
0.010 GeneticVariation BEFREE This patient has a novel GPR56 mutation (R271X) and an unusual phenotype, because he presents hot water epilepsy.To the best of our knowledge, this is the first reported case of BFPP evolving hot water epilepsy. 25642806

2015
dbSNP: rs942831911
rs942831911
ADGRG1
0.010 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
dbSNP: rs121908464
rs121908464
ADGRG1
T 0.810 CausalMutation CLINVAR