Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | breast cancer | | ISO | PMS1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: PMS1-related breast cancer | ClinVar | PMID:24728327 and PMID:25741868 | Colonic Polyps | | ISO | PMS1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Colon polyps | ClinVar | PMID:25637381 | colorectal cancer | | ISO | PMS1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar | | genetic disease | | ISO | PMS1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 | hereditary breast ovarian cancer syndrome | | ISO | PMS1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar | PMID:24728327 and PMID:25741868 | immunodeficiency 31B | | ISO | PMS1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Immunodeficiency 31B | ClinVar | PMID:28492532 | Lynch syndrome | | ISO | PMS1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 | Lynch syndrome 1 | | ISO | PMS1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar | PMID:24728327 more ... | Neurodevelopmental Disorders | | ISO | PMS1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar | PMID:25741868 | ovarian cancer | | ISO | PMS1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Ovarian cancer | ClinVar | PMID:24728327 and PMID:25741868 | |