Disease: Orofaciodigital Syndromes ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0029294
Disease: Orofaciodigital Syndromes
Orofaciodigital Syndromes 		0.320 GeneticVariation disease BEFREE Recently, mutations in the gene encoding the centriolar protein C2CD3 have been described in two families with a new sub-type of OFDS (OFD14), with microcephaly and cerebral malformations. 27094867 2016
CUI: C0029294
Disease: Orofaciodigital Syndromes
Orofaciodigital Syndromes 		0.320 Biomarker disease CTD_human The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation. 24997988 2014
CUI: C0029294
Disease: Orofaciodigital Syndromes
Orofaciodigital Syndromes 		0.320 Biomarker disease BEFREE The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation. 24997988 2014