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Imported Disease Annotations - ClinVarObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | RHCG | Human | Bloom syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Bloom syndrome | ClinVar | PMID:17407155 and PMID:28492532 | RHCG | Human | Bloom syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Bloom syndrome | ClinVar | PMID:28492532 | RHCG | Human | colorectal cancer | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar | PMID:28492532 | RHCG | Human | D-2-hydroxyglutaric aciduria 2 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 | ClinVar | PMID:17407155 and PMID:28492532 | RHCG | Human | D-2-hydroxyglutaric aciduria 2 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 | ClinVar | PMID:28492532 | |