Disease Term Disease ID Gene Symbol Classification References Source
17q21.31 microdeletion syndrome 363958 KANSL1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Chromosome 17q21.31 Deletion Syndrome C1864871 KANSL1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19447831, 22544363, 22544367, 26424144, 26633545 -