Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0152427
Disease: Polydactyly
Polydactyly
0.030 GeneticVariation disease BEFREE Consistent with the previously reported, independent SDCCAG8 mouse models, our mutant mice display pre-axial polydactyly in their hind limbs. 29444170 2018
CUI: C0152427
Disease: Polydactyly
Polydactyly
0.030 GeneticVariation disease BEFREE Patient 1 with SDCCAG8 homozygous deletions showed no ciliopathy-specific extrarenal manifestations, such as retinitis pigmentosa or polydactyly prior to genetic analysis. 26968886 2017
CUI: C0152427
Disease: Polydactyly
Polydactyly
0.030 Biomarker disease BEFREE Our results and prior literature suggest that SDCCAG8 could play an important role in presumed BBS patients affected with severe kidney disease and absent polydactyly. 22626039 2012