Source: BEFREE

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1028
Gene Symbol: CDKN1C
CDKN1C
CUI: C0000846
Disease: Agenesis
Agenesis 		0.010 GeneticVariation 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