rs942831911, ADGRG1

N. diseases: 1
Disease: POLYMICROGYRIA, BILATERAL FRONTOPARIETAL ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
POLYMICROGYRIA, BILATERAL FRONTOPARIETAL
CUI: C1847352
Disease: POLYMICROGYRIA, BILATERAL FRONTOPARIETAL
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