Disease Term Disease ID Gene Symbol Classification References Source
22q11.2 duplication syndrome 1727 TBX1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Chromosome 22q11.2 Microduplication Syndrome C2675369 TBX1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19254783 -