Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
0.300 Biomarker group CTD_human Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype. 22544367 2012
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
0.300 Biomarker group CTD_human Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome. 22544363 2012