KIAA0753, KIAA0753, 9851

N. diseases: 82; N. variants: 4
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 		0.010 GeneticVariation disease BEFREE OFIP/KIAA0753 forms a complex with OFD1 and FOR20 at pericentriolar satellites and centrosomes and is mutated in one individual with oral-facial-digital syndrome. 26643951 2016