Disease: Polydactyly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.320 Biomarker disease BEFREE Murine Inpp5e ablation is embryonically lethal and recapitulates JBTS, including neural tube defects and polydactyly; however, the underlying defects in cilia signaling and the function of INPP5E at cilia are still emerging. 27998989 2017
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.320 Biomarker disease BEFREE Consistent with a role in transition zone function, mutation of mouse Tmem231 disrupts the localization of proteins including Arl13b and Inpp5e to cilia, resulting in phenotypes characteristic of MKS such as polydactyly and kidney cysts. 25869670 2015
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.320 Biomarker disease GENOMICS_ENGLAND