Source: BEFREE

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9289
Gene Symbol: ADGRG1
ADGRG1
CUI: C0302142
Disease: Deformity
Deformity 		0.030 GeneticVariation BEFREE Bi-allelic mutations in <i>GPR56</i> give rise to cobblestone-like malformation, white matter changes and cerebellar dysplasia. 28258187

2017
Entrez Id: 9289
Gene Symbol: ADGRG1
ADGRG1
CUI: C0302142
Disease: Deformity
Deformity 		0.030 Biomarker BEFREE Further studies demonstrated that Col3a1 null mutant mice exhibit overmigration of neurons beyond the pial basement membrane and a cobblestone-like cortical malformation similar to the phenotype seen in Gpr56 null mutant mice. 21768377

2011
Entrez Id: 9289
Gene Symbol: ADGRG1
ADGRG1
CUI: C0302142
Disease: Deformity
Deformity 		0.030 GeneticVariation BEFREE Bilateral frontoparietal polymicrogyria (BFPP) is a rare genetic disease characterized by cortical malformation associated with GPR56 mutations of frameshift, splicing, and point mutations (Science 303:2033). 18042463

2008