CCND1, cyclin D1, 595

N. diseases: 859; N. variants: 12
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4024589
Disease: Aplasia/Hypoplasia of the mandible
Aplasia/Hypoplasia of the mandible
0.010 GeneticVariation phenotype BEFREE We found that loss of Sox11led to reduced cell proliferation in the developing mandibular mesenchyme via Cyclin D1, leading to mandibular hypoplasia, which blocks tongue descent. 26826126 2016