Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | basal cell carcinoma | | ISO | RASA1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:18446851 more ... | Capillary Malformation-Arteriovenous Malformation | | ISO | RASA1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:14639529 more ... | Capillary Malformation-Arteriovenous Malformation 1 | | ISO | RASA1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:14639529 more ... | Central Nervous System Venous Angioma | | ISO | RASA1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cerebral venous angioma | ClinVar | PMID:23650393 more ... | familial adenomatous polyposis 1 | | ISO | RASA1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Familial adenomatous polyposis 1 | ClinVar | PMID:17963004 more ... | genetic disease | | ISO | RASA1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 and PMID:28492532 | hereditary hemorrhagic telangiectasia | | ISO | RASA1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia | ClinVar | PMID:18446851 more ... | Hereditary Neoplastic Syndromes | | ISO | RASA1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:17963004 more ... | Infantile Capillary Hemangioma | | ISO | RASA1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Capillary infantile hemangioma | ClinVar | PMID:25741868 | Klippel-Trenaunay syndrome | | ISO | RASA1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Angio-osteohypertrophy syndrome | ClinVar | | Multiple Basal Cell Carcinoma | | ISO | RASA1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Basal cell carcinoma and multiple | ClinVar | PMID:22200646 more ... | Neurodevelopmental Disorders | | ISO | RASA1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar | PMID:25741868 | Sturge-Weber syndrome | | ISO | RASA1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Parkes Weber syndrome | ClinVar | PMID:25741868 and PMID:28492532 | Sturge-Weber syndrome | | ISO | RASA1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Parkes Weber syndrome | ClinVar | PMID:22200646 more ... | Vascular Malformations | | ISO | RASA1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Vascular malformation | ClinVar | PMID:18363760 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
Imported Disease Annotations - OMIM
Gene Ontology Annotations Click to see Annotation Detail View
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