FOXC2, forkhead box C2, 2303

N. diseases: 168; N. variants: 18
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0683322
Disease: Mental impairment
Mental impairment
0.010 GeneticVariation disease BEFREE Thus, it is likely that the microcephaly, distichiasis, vesicoureteral, and intellectual impairment in this family may be caused by the deletion of one or more of these genes and/or deletion of distant cis-regulatory elements of FOXC2 expression. 22407726 2012