Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | genetic disease | | ISO | MMP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 | head and neck squamous cell carcinoma | | ISO | MMP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar | PMID:28595731 | Joubert syndrome 1 | | ISO | MMP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar | PMID:17558409 and PMID:28492532 | Osteolysis Hereditary Multicentric | | ISO | MMP2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10356396 more ... | Winchester syndrome | | ISO | MMP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Winchester-Grossman syndrome | ClinVar | PMID:10356396 more ... | |