Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908464
rs121908464
Entrez Id: 9289
Gene Symbol: ADGRG1
ADGRG1
CUI: C1847352
Disease:
POLYMICROGYRIA, BILATERAL FRONTOPARIETAL 		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
dbSNP: rs121908464
rs121908464
Entrez Id: 9289
Gene Symbol: ADGRG1
ADGRG1
CUI: C1847352
Disease:
POLYMICROGYRIA, BILATERAL FRONTOPARIETAL 		0.810 GeneticVariation UNIPROT Mechanism for adhesion G protein-coupled receptor GPR56-mediated RhoA activation induced by collagen III stimulation. 24949629 2014
dbSNP: rs121908464
rs121908464
Entrez Id: 9289
Gene Symbol: ADGRG1
ADGRG1
CUI: C1847352
Disease:
POLYMICROGYRIA, BILATERAL FRONTOPARIETAL 		0.810 GeneticVariation UNIPROT Disease-associated mutations prevent GPR56-collagen III interaction. 22238662 2012
dbSNP: rs121908464
rs121908464
Entrez Id: 9289
Gene Symbol: ADGRG1
ADGRG1
CUI: C1847352
Disease:
POLYMICROGYRIA, BILATERAL FRONTOPARIETAL 		0.810 GeneticVariation UNIPROT Disease-associated GPR56 mutations cause bilateral frontoparietal polymicrogyria via multiple mechanisms. 21349848 2011
dbSNP: rs121908464
rs121908464
Entrez Id: 9289
Gene Symbol: ADGRG1
ADGRG1
CUI: C1847352
Disease:
POLYMICROGYRIA, BILATERAL FRONTOPARIETAL 		0.810 GeneticVariation UNIPROT A novel GPR56 mutation causes bilateral frontoparietal polymicrogyria. 21723461 2011
dbSNP: rs121908464
rs121908464
Entrez Id: 9289
Gene Symbol: ADGRG1
ADGRG1
CUI: C1847352
Disease:
POLYMICROGYRIA, BILATERAL FRONTOPARIETAL 		0.810 GeneticVariation UNIPROT Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes. 16240336 2005
dbSNP: rs121908464
rs121908464
Entrez Id: 9289
Gene Symbol: ADGRG1
ADGRG1
CUI: C1847352
Disease:
POLYMICROGYRIA, BILATERAL FRONTOPARIETAL 		0.810 GeneticVariation UNIPROT G protein-coupled receptor-dependent development of human frontal cortex. 15044805 2004
dbSNP: rs121908464
rs121908464
Entrez Id: 9289
Gene Symbol: ADGRG1
ADGRG1
CUI: C1847352
Disease:
POLYMICROGYRIA, BILATERAL FRONTOPARIETAL 		T 0.810 CausalMutation CLINVAR
dbSNP: rs121908462
rs121908462
Entrez Id: 9289
Gene Symbol: ADGRG1
ADGRG1
CUI: C1847352
Disease:
POLYMICROGYRIA, BILATERAL FRONTOPARIETAL 		0.800 GeneticVariation UNIPROT Mechanism for adhesion G protein-coupled receptor GPR56-mediated RhoA activation induced by collagen III stimulation. 24949629 2014
dbSNP: rs121908463
rs121908463
Entrez Id: 9289
Gene Symbol: ADGRG1
ADGRG1
CUI: C1847352
Disease:
POLYMICROGYRIA, BILATERAL FRONTOPARIETAL 		0.800 GeneticVariation UNIPROT Mechanism for adhesion G protein-coupled receptor GPR56-mediated RhoA activation induced by collagen III stimulation. 24949629 2014
dbSNP: rs121908465
rs121908465
Entrez Id: 9289
Gene Symbol: ADGRG1
ADGRG1
CUI: C1847352
Disease:
POLYMICROGYRIA, BILATERAL FRONTOPARIETAL 		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
Entrez Id: 9289
Gene Symbol: ADGRG1
ADGRG1
CUI: C1847352
Disease:
POLYMICROGYRIA, BILATERAL FRONTOPARIETAL 		0.800 GeneticVariation UNIPROT Mechanism for adhesion G protein-coupled receptor GPR56-mediated RhoA activation induced by collagen III stimulation. 24949629 2014
dbSNP: rs121908462
rs121908462
Entrez Id: 9289
Gene Symbol: ADGRG1
ADGRG1
CUI: C1847352
Disease:
POLYMICROGYRIA, BILATERAL FRONTOPARIETAL 		0.800 GeneticVariation UNIPROT Disease-associated mutations prevent GPR56-collagen III interaction. 22238662 2012
dbSNP: rs121908463
rs121908463
Entrez Id: 9289
Gene Symbol: ADGRG1
ADGRG1
CUI: C1847352
Disease:
POLYMICROGYRIA, BILATERAL FRONTOPARIETAL 		0.800 GeneticVariation UNIPROT Disease-associated mutations prevent GPR56-collagen III interaction. 22238662 2012
dbSNP: rs121908465
rs121908465
Entrez Id: 9289
Gene Symbol: ADGRG1
ADGRG1
CUI: C1847352
Disease:
POLYMICROGYRIA, BILATERAL FRONTOPARIETAL 		0.800 GeneticVariation UNIPROT Disease-associated mutations prevent GPR56-collagen III interaction. 22238662 2012
dbSNP: rs121908466
rs121908466
Entrez Id: 9289
Gene Symbol: ADGRG1
ADGRG1
CUI: C1847352
Disease:
POLYMICROGYRIA, BILATERAL FRONTOPARIETAL 		0.800 GeneticVariation UNIPROT Disease-associated mutations prevent GPR56-collagen III interaction. 22238662 2012
dbSNP: rs121908462
rs121908462
Entrez Id: 9289
Gene Symbol: ADGRG1
ADGRG1
CUI: C1847352
Disease:
POLYMICROGYRIA, BILATERAL FRONTOPARIETAL 		0.800 GeneticVariation UNIPROT Disease-associated GPR56 mutations cause bilateral frontoparietal polymicrogyria via multiple mechanisms. 21349848 2011
dbSNP: rs121908462
rs121908462
Entrez Id: 9289
Gene Symbol: ADGRG1
ADGRG1
CUI: C1847352
Disease:
POLYMICROGYRIA, BILATERAL FRONTOPARIETAL 		0.800 GeneticVariation UNIPROT A novel GPR56 mutation causes bilateral frontoparietal polymicrogyria. 21723461 2011
dbSNP: rs121908463
rs121908463
Entrez Id: 9289
Gene Symbol: ADGRG1
ADGRG1
CUI: C1847352
Disease:
POLYMICROGYRIA, BILATERAL FRONTOPARIETAL 		0.800 GeneticVariation UNIPROT A novel GPR56 mutation causes bilateral frontoparietal polymicrogyria. 21723461 2011
dbSNP: rs121908463
rs121908463
Entrez Id: 9289
Gene Symbol: ADGRG1
ADGRG1
CUI: C1847352
Disease:
POLYMICROGYRIA, BILATERAL FRONTOPARIETAL 		0.800 GeneticVariation UNIPROT Disease-associated GPR56 mutations cause bilateral frontoparietal polymicrogyria via multiple mechanisms. 21349848 2011
dbSNP: rs121908465
rs121908465
Entrez Id: 9289
Gene Symbol: ADGRG1
ADGRG1
CUI: C1847352
Disease:
POLYMICROGYRIA, BILATERAL FRONTOPARIETAL 		0.800 GeneticVariation UNIPROT Disease-associated GPR56 mutations cause bilateral frontoparietal polymicrogyria via multiple mechanisms. 21349848 2011
dbSNP: rs121908465
rs121908465
Entrez Id: 9289
Gene Symbol: ADGRG1
ADGRG1
CUI: C1847352
Disease:
POLYMICROGYRIA, BILATERAL FRONTOPARIETAL 		0.800 GeneticVariation UNIPROT A novel GPR56 mutation causes bilateral frontoparietal polymicrogyria. 21723461 2011
dbSNP: rs121908466
rs121908466
Entrez Id: 9289
Gene Symbol: ADGRG1
ADGRG1
CUI: C1847352
Disease:
POLYMICROGYRIA, BILATERAL FRONTOPARIETAL 		0.800 GeneticVariation UNIPROT A novel GPR56 mutation causes bilateral frontoparietal polymicrogyria. 21723461 2011
dbSNP: rs121908466
rs121908466
Entrez Id: 9289
Gene Symbol: ADGRG1
ADGRG1
CUI: C1847352
Disease:
POLYMICROGYRIA, BILATERAL FRONTOPARIETAL 		0.800 GeneticVariation UNIPROT Disease-associated GPR56 mutations cause bilateral frontoparietal polymicrogyria via multiple mechanisms. 21349848 2011
dbSNP: rs121908462
rs121908462
Entrez Id: 9289
Gene Symbol: ADGRG1
ADGRG1
CUI: C1847352
Disease:
POLYMICROGYRIA, BILATERAL FRONTOPARIETAL 		0.800 GeneticVariation UNIPROT Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes. 16240336 2005