Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0432442
Disease: Chromosome 18p deletion syndrome
Chromosome 18p deletion syndrome
0.010 Biomarker disease BEFREE Numerical aberrations of chromosome 18 are relatively common and the majority of 18p deletion syndrome (18p-) cases have, such as these FSHD2 families, only one copy of SMCHD1. 25820463 2015