Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | genetic disease | | ISO | TBX2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 more ... | Joubert syndrome 1 | | ISO | TBX2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar | PMID:28492532 | megacolon | | ISO | TBX2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Megacolon | ClinVar | PMID:21681106 | microcephaly | | ISO | TBX2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Microcephaly | ClinVar | PMID:25741868 | vertebral anomalies and variable endocrine and T-cell dysfunction | | ISO | TBX2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 more ... | |