Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome
0.010 GeneticVariation disease BEFREE Duplication of C7orf58, WNT16 and FAM3C in an obese female with a t(7;22)(q32.1;q11.2) chromosomal translocation and clinical features resembling Coffin-Siris Syndrome. 23300646 2012