rs146278035, ADGRG1

N. diseases: 4
Disease: Dysmorphic features ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Bilateral frontoparietal polymicrogyria: a novel GPR56 mutation and an unusual phenotype. 25642806 2015
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR The adhesion G protein-coupled receptor GPR56 is a cell-autonomous regulator of oligodendrocyte development. 25607655 2015
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Evolutionarily dynamic alternative splicing of GPR56 regulates regional cerebral cortical patterning. 24531968 2014
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Compound heterozygosity in GPR56 with bilateral frontoparietal polymicrogyria. 23981349 2014
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR The N terminus of the adhesion G protein-coupled receptor GPR56 controls receptor signaling activity. 21708946 2011
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Disease-associated GPR56 mutations cause bilateral frontoparietal polymicrogyria via multiple mechanisms. 21349848 2011
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex. 20929962 2010
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Bilateral frontoparietal polymicrogyria, Lennox-Gastaut syndrome, and GPR56 gene mutations. 19016831 2009
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes. 16240336 2005
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Bilateral frontoparietal polymicrogyria: clinical and radiological features in 10 families with linkage to chromosome 16. 12730993 2003