CDKN1C, cyclin dependent kinase inhibitor 1C, 1028

N. diseases: 298; N. variants: 32
Disease: Agenesis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0000846
Disease: Agenesis
Agenesis 		0.010 GeneticVariation disease BEFREE In family B, we identified three candidate genes (CCNO, KCNN3 and CDKN1C), with a 5-bp duplication in CCNO (NM_021147.3:c.258_262dup; p.Gln88Argfs*8) being the most likely cause of ciliary aplasia. 24824133 2015