Disease: Osteofibrous Dysplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1709353
Disease: Osteofibrous Dysplasia
Osteofibrous Dysplasia 		0.020 GeneticVariation disease BEFREE Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome. 29605658 2018
CUI: C1709353
Disease: Osteofibrous Dysplasia
Osteofibrous Dysplasia 		0.020 Biomarker disease BEFREE C5orf42 is the major gene responsible for OFD syndrome type VI. 24178751 2014