Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3683846
Disease: Chromosome 17p Deletion Syndrome
Chromosome 17p Deletion Syndrome
0.300 Biomarker phenotype CTD_human Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype. 22544367 2012
CUI: C3683846
Disease: Chromosome 17p Deletion Syndrome
Chromosome 17p Deletion Syndrome
0.300 Biomarker phenotype CTD_human Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome. 22544363 2012