Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0432028
Disease: Split foot
Split foot
0.020 GeneticVariation disease BEFREE Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families. 25231166 2014
CUI: C0432028
Disease: Split foot
Split foot
0.020 Biomarker disease BEFREE Next generation sequencing of chromosomal rearrangements in patients with split-hand/split-foot malformation provides evidence for DYNC1I1 exonic enhancers of DLX5/6 expression in humans. 24459211 2014