Disease: Dysmorphic features ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation disease CLINVAR Bilateral frontoparietal polymicrogyria: a novel GPR56 mutation and an unusual phenotype. 25642806 2015
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation disease CLINVAR The adhesion G protein-coupled receptor GPR56 is a cell-autonomous regulator of oligodendrocyte development. 25607655 2015
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR Bilateral frontoparietal polymicrogyria: a novel GPR56 mutation and an unusual phenotype. 25642806 2015
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR The adhesion G protein-coupled receptor GPR56 is a cell-autonomous regulator of oligodendrocyte development. 25607655 2015
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation disease CLINVAR Evolutionarily dynamic alternative splicing of GPR56 regulates regional cerebral cortical patterning. 24531968 2014
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR Compound heterozygosity in GPR56 with bilateral frontoparietal polymicrogyria. 23981349 2014
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation disease CLINVAR Compound heterozygosity in GPR56 with bilateral frontoparietal polymicrogyria. 23981349 2014
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR Evolutionarily dynamic alternative splicing of GPR56 regulates regional cerebral cortical patterning. 24531968 2014
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR The N terminus of the adhesion G protein-coupled receptor GPR56 controls receptor signaling activity. 21708946 2011
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR Disease-associated GPR56 mutations cause bilateral frontoparietal polymicrogyria via multiple mechanisms. 21349848 2011
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation disease CLINVAR The N terminus of the adhesion G protein-coupled receptor GPR56 controls receptor signaling activity. 21708946 2011
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation disease CLINVAR Disease-associated GPR56 mutations cause bilateral frontoparietal polymicrogyria via multiple mechanisms. 21349848 2011
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex. 20929962 2010
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation disease CLINVAR GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex. 20929962 2010
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR Bilateral frontoparietal polymicrogyria, Lennox-Gastaut syndrome, and GPR56 gene mutations. 19016831 2009
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation disease CLINVAR Bilateral frontoparietal polymicrogyria, Lennox-Gastaut syndrome, and GPR56 gene mutations. 19016831 2009
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes. 16240336 2005
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation disease CLINVAR Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes. 16240336 2005
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation disease CLINVAR Bilateral frontoparietal polymicrogyria: clinical and radiological features in 10 families with linkage to chromosome 16. 12730993 2003
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR Bilateral frontoparietal polymicrogyria: clinical and radiological features in 10 families with linkage to chromosome 16. 12730993 2003