Imported Disease Annotations - ClinVarObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | F11 | Human | autistic disorder | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autism | ClinVar | PMID:21681106 and PMID:30208311 | F11 | Human | factor X deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Congenital factor X deficiency | ClinVar | PMID:25741868 and PMID:31064749 | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar | PMID:15953011 and PMID:16835901 | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar | PMID:15728123 more ... | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Plasma factor XI deficiency | ClinVar | PMID:10593931 more ... | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Plasma factor XI deficiency | ClinVar | PMID:15026311 more ... | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar | PMID:25741868 and PMID:31064749 | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar | PMID:15953011 | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar | PMID:14508802 more ... | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Plasma factor XI deficiency | ClinVar | PMID:12716376 more ... | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar | PMID:18005151 more ... | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar | PMID:15026311 more ... | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar | PMID:10606881 more ... | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar | PMID:10630991 more ... | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Plasma factor XI deficiency | ClinVar | PMID:11122101 more ... | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar | PMID:18832909 more ... | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar | PMID:14717969 more ... | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar | PMID:25741868 | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 and PMID:28492532 | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar | PMID:16835901 more ... | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar | PMID:10606881 and PMID:19652879 | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar | PMID:19652879 more ... | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar | PMID:25158988 more ... | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar | PMID:10606881 more ... | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar | PMID:29178608 | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar | PMID:18388506 and PMID:19652879 | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar | PMID:12716376 more ... | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar | PMID:7888672 | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar | PMID:14717969 more ... | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar | PMID:25741868 and PMID:34355501 | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar | PMID:19367158 more ... | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar | PMID:20523169 and PMID:28492532 | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar | PMID:23305485 and PMID:25741868 | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar | PMID:23929304 and PMID:28492532 | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:16199547 more ... | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar | PMID:14717969 more ... | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar | PMID:24112640 | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar | PMID:23929304 more ... | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar | PMID:23929304 more ... | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar | PMID:22159456 more ... | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar | PMID:15870541 more ... | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar | PMID:18388506 more ... | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar | PMID:22159456 and PMID:25741868 | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar | PMID:15531455 more ... | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar | PMID:25741868 and PMID:7888672 | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Plasma factor XI deficiency | ClinVar | PMID:16835901 more ... | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Plasma factor XI deficiency | ClinVar | PMID:25741868 and PMID:28492532 | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar | PMID:11895778 more ... | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar | PMID:11895778 more ... | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar | PMID:16607084 more ... | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | PMID:28492532 | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar | PMID:11127865 more ... | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar | PMID:16079124 more ... | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar | PMID:14717969 more ... | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar | PMID:14717969 more ... | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Plasma factor XI deficiency | ClinVar | PMID:15180874 more ... | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar | PMID:20398070 more ... | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar | PMID:21649796 more ... | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Plasma factor XI deficiency | ClinVar | PMID:11127865 more ... | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar | PMID:16199547 more ... | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar | PMID:12716376 more ... | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar | PMID:16787881 more ... | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar | PMID:16199547 more ... | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar | PMID:15180874 more ... | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar | PMID:18515884 more ... | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar | PMID:25741868 more ... | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar | PMID:23929304 more ... | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar | PMID:15634276 more ... | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Plasma factor XI deficiency | ClinVar | PMID:15749683 more ... | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar | PMID:15728123 more ... | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar | PMID:16835901 more ... | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Plasma factor XI deficiency | ClinVar | PMID:10444286 more ... | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Plasma factor XI deficiency | ClinVar | PMID:25741868 and PMID:27710856 | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar | PMID:15953011 more ... | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar | PMID:22159456 and PMID:36195107 | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar | PMID:15026311 more ... | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar | PMID:32581362 | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Plasma factor XI deficiency | ClinVar | PMID:23929304 more ... | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar | PMID:11127865 more ... | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar | PMID:21457405 more ... | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar | PMID:25741868 more ... | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar | PMID:15531455 more ... | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Plasma factor XI deficiency | ClinVar | PMID:16835901 more ... | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Plasma factor XI deficiency | ClinVar | PMID:15140147 and PMID:28492532 | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Plasma factor XI deficiency | ClinVar | PMID:11418471 more ... | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar | PMID:18005151 and PMID:25741869 | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar | PMID:15953011 more ... | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar | PMID:16835901 more ... | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar | PMID:16079124 more ... | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar | PMID:23305485 | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Plasma factor XI deficiency | ClinVar | PMID:19652879 | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar | PMID:15968392 more ... | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar | PMID:21457405 | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar | PMID:27723456 | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar | PMID:22159456 | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar | PMID:22016685 | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar | PMID:16835901 and PMID:20398070 | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar | PMID:12586617 more ... | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar | PMID:18446632 | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar | PMID:19652879 and PMID:27710856 | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar | PMID:26879396 | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar | PMID:19367158 | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar | PMID:16835901 and PMID:19652879 | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Plasma factor XI deficiency | ClinVar | PMID:10706758 more ... | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Plasma factor XI deficiency | ClinVar | PMID:16835901 more ... | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar | PMID:9401068 | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar | PMID:16835901 | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar | PMID:15026311 | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar | PMID:22159456 more ... | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar | PMID:12879434 and PMID:18832909 | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Plasma factor XI deficiency | ClinVar | PMID:15946525 more ... | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar | PMID:7669672 | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Plasma factor XI deficiency | ClinVar | PMID:24033266 more ... | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar | PMID:15953011 more ... | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Plasma factor XI deficiency | ClinVar | PMID:25741868 more ... | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Plasma factor XI deficiency | ClinVar | PMID:19652879 more ... | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar | PMID:16835901 and PMID:18446632 | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Plasma factor XI deficiency | ClinVar | PMID:16835901 more ... | F11 | Human | factor XI deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Plasma factor XI deficiency | ClinVar | PMID:10593931 more ... | F11 | Human | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 | F11 | Human | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:10593931 more ... | F11 | Human | genetic disease | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | F11 | Human | hemorrhagic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Abnormal bleeding | ClinVar | PMID:10593931 more ... | F11 | Human | hemorrhagic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Abnormal bleeding | ClinVar | PMID:10593931 more ... | F11 | Human | hemorrhagic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Abnormal bleeding | ClinVar | PMID:11122101 more ... | F11 | Human | hemorrhagic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Abnormal bleeding | ClinVar | PMID:15531455 more ... | F11 | Human | hemorrhagic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Abnormal bleeding | ClinVar | PMID:16079124 more ... | F11 | Human | Herpes Simplex Encephalitis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Herpes simplex encephalitis more ... | ClinVar | PMID:15042513 more ... | F11 | Human | thrombocytopenia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Thrombocytopenia | ClinVar | PMID:10593931 more ... | |
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Cellular Component
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Molecular Function
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Molecular Pathway Annotations
Click to see Annotation Detail View
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Phenotype Annotations
Click to see Annotation Detail View
Human Phenotype
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References
References - curated
| # | Reference Title | Reference Citation |
| 1. | Factor XI (plasma thromboplastin antecedent) deficiency in Ashkenazi Jews is a bleeding disorder that can result from three types of point mutations. | Asakai R, etal., Proc Natl Acad Sci U S A. 1989 Oct;86(20):7667-71. |
| 2. | Noonan syndrome: partial factor XI deficiency. | de Haan M, etal., Am J Med Genet. 1988 Feb;29(2):277-82. |
| 3. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
| 4. | Targeting coagulation factor XII provides protection from pathological thrombosis in cerebral ischemia without interfering with hemostasis. | Kleinschnitz C, etal., J Exp Med. 2006 Mar 20;203(3):513-8. Epub 2006 Mar 13. |
| 5. | Anti-c5a ameliorates coagulation/fibrinolytic protein changes in a rat model of sepsis. | Laudes IJ, etal., Am J Pathol. 2002 May;160(5):1867-75. |
| 6. | Genetic variants associated with deep vein thrombosis: the F11 locus. | Li Y, etal., J Thromb Haemost. 2009 Nov;7(11):1802-8. doi: 10.1111/j.1538-7836.2009.03544.x. Epub 2009 Jul 6. |
| 7. | The F11 rs2289252 polymorphism is associated with FXI activity levels and APTT ratio in women with thrombosis. | Lunghi B, etal., Thromb Res. 2012 Sep;130(3):563-4. doi: 10.1016/j.thromres.2012.05.004. Epub 2012 May 25. |
| 8. | High levels of coagulation factor XI as a risk factor for venous thrombosis. | Meijers JC, etal., N Engl J Med. 2000 Mar 9;342(10):696-701. |
| 9. | Effect of dienogest on bleeding time, coagulation, fibrinolysis, and platelet aggregation in female rats. | Nobukata H, etal., Toxicol Lett. 1999 Jan 11;104(1-2):93-101. |
| 10. | Blood coagulation. | Norris LA, Best Pract Res Clin Obstet Gynaecol. 2003 Jun;17(3):369-83. |
| 11. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 12. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
| 13. | SMPDB Annotation Import Pipeline | Pipeline to import SMPDB annotations from SMPDB into RGD |
| 14. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 15. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 16. | RGD HPO Phenotype Annotation Pipeline | RGD automated import pipeline for human HPO-to-gene-to-disease annotations |
| 17. | A novel mutation that leads to a congenital factor XI deficiency in a Japanese family. | Sato E, etal., Am J Hematol. 2000 Apr;63(4):165-9. |
| 18. | How it all starts: Initiation of the clotting cascade. | Smith SA, etal., Crit Rev Biochem Mol Biol. 2015;50(4):326-36. doi: 10.3109/10409238.2015.1050550. Epub 2015 May 28. |
| 19. | Activity of coagulation factor XI in patients with spontaneous miscarriage: the presence of risk alleles. | Sokol J, etal., J Obstet Gynaecol. 2015;35(6):621-4. doi: 10.3109/01443615.2014.991284. Epub 2014 Dec 17. |
| 20. | Molecular genetic analysis of factor XI deficiency: identification of five novel gene alterations and the origin of type II mutation in Portuguese families. | Ventura C, etal., Thromb Haemost. 2000 Nov;84(5):833-40. |
Additional References at PubMed
| PMID:89876 | PMID:291905 | PMID:1547342 | PMID:1652157 | PMID:1673289 | PMID:1762944 | PMID:1952475 | PMID:1998667 | PMID:2019570 | PMID:2052060 | PMID:2551064 | PMID:2827746 |
| PMID:2844223 | PMID:3636155 | PMID:3936495 | PMID:6626744 | PMID:7044446 | PMID:7669672 | PMID:7888672 | PMID:8555184 | PMID:8703832 | PMID:9169594 | PMID:9242536 | PMID:9401068 |
| PMID:9593722 | PMID:9787168 | PMID:10027710 | PMID:10391209 | PMID:10494760 | PMID:10552949 | PMID:10606881 | PMID:10823824 | PMID:10962009 | PMID:11412111 | PMID:11733491 | PMID:11891231 |
| PMID:11895778 | PMID:12029092 | PMID:12167623 | PMID:12372819 | PMID:12477932 | PMID:12496253 | PMID:12517745 | PMID:12871398 | PMID:12944405 | PMID:14521591 | PMID:14521595 | PMID:14629467 |
| PMID:14717969 | PMID:15072993 | PMID:15090552 | PMID:15182578 | PMID:15226185 | PMID:15317813 | PMID:15375170 | PMID:15456479 | PMID:15456480 | PMID:15456490 | PMID:15489334 | PMID:15545266 |
| PMID:15634276 | PMID:15815621 | PMID:15842381 | PMID:15870541 | PMID:15996948 | PMID:16042419 | PMID:16079124 | PMID:16085935 | PMID:16204896 | PMID:16330457 | PMID:16335952 | PMID:16344560 |
| PMID:16613788 | PMID:16699514 | PMID:16835901 | PMID:16878977 | PMID:17229051 | PMID:17257616 | PMID:17284699 | PMID:17549289 | PMID:17581330 | PMID:17597996 | PMID:17652512 | PMID:17768109 |
| PMID:17884987 | PMID:18005151 | PMID:18020374 | PMID:18024374 | PMID:18186617 | PMID:18192270 | PMID:18217146 | PMID:18268095 | PMID:18327400 | PMID:18387979 | PMID:18388506 | PMID:18441012 |
| PMID:18515884 | PMID:18612554 | PMID:18832909 | PMID:18839438 | PMID:19056867 | PMID:19351955 | PMID:19617576 | PMID:19652879 | PMID:19661487 | PMID:19682239 | PMID:19718484 | PMID:19913121 |
| PMID:20015217 | PMID:20042724 | PMID:20110423 | PMID:20128871 | PMID:20308231 | PMID:20339536 | PMID:20352152 | PMID:20456758 | PMID:20491955 | PMID:20523169 | PMID:20589316 | PMID:20628086 |
| PMID:20727068 | PMID:20961395 | PMID:21057700 | PMID:21192253 | PMID:21236471 | PMID:21527525 | PMID:21649796 | PMID:21668437 | PMID:21718436 | PMID:21820158 | PMID:21980494 | PMID:21999818 |
| PMID:22159456 | PMID:22207756 | PMID:22322133 | PMID:22505407 | PMID:22703881 | PMID:22704541 | PMID:22961984 | PMID:23305485 | PMID:23332144 | PMID:23376485 | PMID:23494098 | PMID:23515926 |
| PMID:23571684 | PMID:23617568 | PMID:23650146 | PMID:23659638 | PMID:23929304 | PMID:24086496 | PMID:24112640 | PMID:24420855 | PMID:24498168 | PMID:24509324 | PMID:24759143 | PMID:24977287 |
| PMID:25091233 | PMID:25092234 | PMID:25288467 | PMID:25338662 | PMID:25379760 | PMID:25618263 | PMID:25681615 | PMID:25935648 | PMID:25976967 | PMID:26136249 | PMID:26160656 | PMID:26260105 |
| PMID:26386215 | PMID:26423325 | PMID:26631918 | PMID:26769048 | PMID:26857798 | PMID:26934731 | PMID:27006387 | PMID:27067486 | PMID:27094709 | PMID:27414984 | PMID:27419389 | PMID:27627722 |
| PMID:27710856 | PMID:27723456 | PMID:27756191 | PMID:27933406 | PMID:28009647 | PMID:28053049 | PMID:28124063 | PMID:28148841 | PMID:28353616 | PMID:28393470 | PMID:28445521 | PMID:28514442 |
| PMID:28615222 | PMID:28960694 | PMID:29032977 | PMID:29158361 | PMID:29619369 | PMID:29727017 | PMID:29995659 | PMID:30021884 | PMID:30355187 | PMID:30600428 | PMID:30784172 | PMID:30801944 |
| PMID:30845846 | PMID:30950027 | PMID:31400132 | PMID:31519061 | PMID:31791878 | PMID:31912715 | PMID:32118380 | PMID:32335872 | PMID:32496885 | PMID:32751741 | PMID:32804133 | PMID:32809158 |
| PMID:32809486 | PMID:33692375 | PMID:33961781 | PMID:34351069 | PMID:34547878 | PMID:34776502 | PMID:34813608 | PMID:35377529 | PMID:36724509 | PMID:36940803 | PMID:37141257 | PMID:37252892 |
| PMID:37460982 | PMID:37906134 | PMID:38194679 | PMID:38759137 | PMID:38968817 | PMID:39158072 |
Genomics
Comparative Map Data
| F11 (Homo sapiens - human) |
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| F11 (Mus musculus - house mouse) |
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| F11 (Rattus norvegicus - Norway rat) |
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| F11 (Chinchilla lanigera - long-tailed chinchilla) |
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| F11 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| F11 (Canis lupus familiaris - dog) |
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| LOC101967202 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| F11 (Sus scrofa - pig) |
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| F11 (Chlorocebus sabaeus - green monkey) |
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| F11 (Heterocephalus glaber - naked mole-rat) |
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Variants
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Variants in F11
572 total Variants 
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