Disease Term Disease ID Gene Symbol Classification References Source
5p13 microduplication syndrome 329802 NIPBL Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Chromosome 5p13 Duplication Syndrome C2750805 NIPBL Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 23085304 -