Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | breast cancer | | ISO | EXT1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Malignant tumor of breast | ClinVar | PMID:28492532 | chondrosarcoma | | ISO | EXT1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10679937 more ... | genetic disease | | ISO | EXT1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:10639137 more ... | hereditary multiple exostoses | | ISO | EXT1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10480354 more ... | microcephaly | | ISO | EXT1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Microcephaly | ClinVar | PMID:24728327 more ... | Multiple Exostoses Type I | | ISO | EXT1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: EXOSTOSES more ... | ClinVar | PMID:10639137 more ... | Ollier disease | | ISO | EXT1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: OSTEOCHONDROMATOSIS | ClinVar | PMID:10639137 more ... | Osteochondromatosis | | ISO | EXT1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: OSTEOCHONDROMATOSIS | ClinVar | PMID:10639137 more ... | ovarian cancer | | ISO | EXT1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Ovarian cancer | ClinVar | PMID:25741868 and PMID:28492532 | trichorhinophalangeal syndrome type I | | ISO | EXT1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I | ClinVar | PMID:25741868 | trichorhinophalangeal syndrome type II | | ISO | EXT1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Langer-Giedion syndrome | ClinVar | PMID:17301954 more ... | |