Disease Term Disease ID Gene Symbol Classification References Source
2q32q33 microdeletion syndrome 251019 SATB2 Causal Pathogenic evidence from ClinVar - ClinVar
Chromosome 2q32-Q33 Deletion Syndrome C2676739 SATB2 Causal Pathogenic evidence from ClinVar 16179223, 17377962, 24301056, 25356970, 25885067, 28151491 ClinVar