Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Acute Coronary Syndrome | | IAGP | RGD:8556009 | 8554872 | ClinVar Annotator: match by term: FACTOR XII POLYMORPHISM | ClinVar | PMID:11843842 more ... | angioedema | | IAGP | RGD:8556012 | 8554872 | ClinVar Annotator: match by term: Quincke edema | ClinVar | PMID:16638441, PMID:25741868 | bilirubin metabolic disorder | | IAGP | RGD:8556012 | 8554872 | ClinVar Annotator: match by term: Hyperbilirubinemia | ClinVar | PMID:16638441, PMID:25741868 | Ehlers-Danlos syndrome spondylodysplastic type 2 | | IAGP | RGD:151795153 | 8554872 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type | ClinVar | PMID:28492532 | Ehlers-Danlos syndrome spondylodysplastic type 2 | | IAGP | RGD:151825992 | 8554872 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type | ClinVar | PMID:28492532 | factor XII deficiency | | IAGP | RGD:8556011 | 8554872 | ClinVar Annotator: match by term: Factor 12 deficiency | ClinVar | PMID:10984376 more ... | factor XII deficiency | | IAGP | RGD:8595332 | 8554872 | ClinVar Annotator: match by term: Factor XII deficiency disease | ClinVar | PMID:17576681 more ... | factor XII deficiency | | IAGP | RGD:11547288 | 8554872 | ClinVar Annotator: match by term: Factor 12 deficiency | ClinVar | PMID:24033266 more ... | factor XII deficiency | | IAGP | RGD:11665667 | 8554872 | ClinVar Annotator: match by term: Factor XII deficiency disease | ClinVar | PMID:28492532 | factor XII deficiency | | IAGP | RGD:11581264 | 8554872 | ClinVar Annotator: match by term: Factor XII deficiency disease | ClinVar | PMID:21264442 more ... | factor XII deficiency | | IAGP | RGD:11585015 | 8554872 | ClinVar Annotator: match by term: Factor 12 deficiency | ClinVar | PMID:28492532 | factor XII deficiency | | IAGP | RGD:11582978 | 8554872 | ClinVar Annotator: match by term: Factor 12 deficiency | ClinVar | PMID:28492532 | factor XII deficiency | | IAGP | RGD:11550865 | 8554872 | ClinVar Annotator: match by term: Factor 12 deficiency | ClinVar | PMID:24033266 more ... | factor XII deficiency | | IAGP | RGD:11593386 | 8554872 | ClinVar Annotator: match by term: Factor 12 deficiency | ClinVar | PMID:25741868, PMID:28492532 | factor XII deficiency | | IAGP | RGD:11589171 | 8554872 | ClinVar Annotator: match by term: Factor 12 deficiency | ClinVar | PMID:25741868, PMID:28492532 | factor XII deficiency | | IAGP | RGD:11665685 | 8554872 | ClinVar Annotator: match by term: Factor 12 deficiency | ClinVar | PMID:28492532 | factor XII deficiency | | IAGP | RGD:8556012 | 8554872 | ClinVar Annotator: match by term: Factor 12 deficiency | ClinVar | PMID:16638441, PMID:25741868 | factor XII deficiency | | IAGP | RGD:28890717 | 8554872 | ClinVar Annotator: match by term: Factor XII deficiency disease | ClinVar | | factor XII deficiency | | IAGP | RGD:28890722 | 8554872 | ClinVar Annotator: match by term: Factor 12 deficiency | ClinVar | | factor XII deficiency | | IAGP | RGD:28890727 | 8554872 | ClinVar Annotator: match by term: Factor 12 deficiency | ClinVar | | factor XII deficiency | | IAGP | RGD:28904254 | 8554872 | ClinVar Annotator: match by term: Factor XII deficiency disease | ClinVar | | factor XII deficiency | | IAGP | RGD:28893693 | 8554872 | ClinVar Annotator: match by term: Factor XII deficiency disease | ClinVar | PMID:18974842 more ... | factor XII deficiency | | IAGP | RGD:28890470 | 8554872 | ClinVar Annotator: match by term: Factor XII deficiency disease | ClinVar | | factor XII deficiency | | IAGP | RGD:28890464 | 8554872 | ClinVar Annotator: match by term: Factor XII deficiency disease | ClinVar | | factor XII deficiency | | IAGP | RGD:28900387 | 8554872 | ClinVar Annotator: match by term: Factor XII deficiency disease | ClinVar | | factor XII deficiency | | IAGP | RGD:28890172 | 8554872 | ClinVar Annotator: match by term: Factor XII deficiency disease | ClinVar | | factor XII deficiency | | IAGP | RGD:28890181 | 8554872 | ClinVar Annotator: match by term: Factor 12 deficiency | ClinVar | | factor XII deficiency | | IAGP | RGD:28904473 | 8554872 | ClinVar Annotator: match by term: Factor 12 deficiency | ClinVar | | factor XII deficiency | | IAGP | RGD:28904471 | 8554872 | ClinVar Annotator: match by term: Factor 12 deficiency | ClinVar | | factor XII deficiency | | IAGP | RGD:28890175 | 8554872 | ClinVar Annotator: match by term: Factor 12 deficiency | ClinVar | | factor XII deficiency | | IAGP | RGD:28904044 | 8554872 | ClinVar Annotator: match by term: Factor XII deficiency disease | ClinVar | | factor XII deficiency | | IAGP | RGD:8556010 | 8554872 | ClinVar Annotator: match by term: Factor XII deficiency disease | ClinVar | PMID:10361128 | factor XII deficiency | | IAGP | RGD:11584156 | 8554872 | ClinVar Annotator: match by term: Factor XII deficiency | ClinVar | PMID:28492532 | factor XII deficiency | | IAGP | RGD:11666225 | 8554872 | ClinVar Annotator: match by term: Factor XII deficiency | ClinVar | PMID:28492532 | factor XII deficiency | | IAGP | RGD:11665495 | 8554872 | ClinVar Annotator: match by term: Factor XII deficiency | ClinVar | PMID:28492532 | factor XII deficiency | | IAGP | RGD:11666274 | 8554872 | ClinVar Annotator: match by term: Factor XII deficiency | ClinVar | PMID:28492532 | factor XII deficiency | | IAGP | RGD:11590787 | 8554872 | ClinVar Annotator: match by term: Factor 12 deficiency | ClinVar | PMID:25741868, PMID:28492532 | factor XII deficiency | | IAGP | RGD:11583726 | 8554872 | ClinVar Annotator: match by term: Factor 12 deficiency | ClinVar | PMID:25741868 | factor XII deficiency | | IAGP | RGD:11665756 | 8554872 | ClinVar Annotator: match by term: Factor XII deficiency disease | ClinVar | PMID:28492532 | factor XII deficiency | | IAGP | RGD:11587393 | 8554872 | ClinVar Annotator: match by term: Hageman factor deficiency | ClinVar | | factor XII deficiency | | IAGP | RGD:11595410 | 8554872 | ClinVar Annotator: match by term: Hageman factor deficiency | ClinVar | | factor XII deficiency | | IAGP | RGD:11586457 | 8554872 | ClinVar Annotator: match by term: Hageman factor deficiency | ClinVar | PMID:19786295 | factor XII deficiency | | IAGP | RGD:11665871 | 8554872 | ClinVar Annotator: match by term: Hageman factor deficiency | ClinVar | | factor XII deficiency | | IAGP | RGD:11657907 | 8554872 | ClinVar Annotator: match by term: Hageman factor deficiency | ClinVar | | factor XII deficiency | | IAGP | RGD:11652484 | 8554872 | ClinVar Annotator: match by term: Hageman factor deficiency | ClinVar | | factor XII deficiency | | IAGP | RGD:8556009 | 8554872 | ClinVar Annotator: match by term: Hageman factor deficiency | ClinVar | PMID:11843842 more ... | factor XII deficiency | | IAGP | RGD:11590515 | 8554872 | ClinVar Annotator: match by term: Hageman factor deficiency | ClinVar | | factor XII deficiency | | IAGP | RGD:11665587 | 8554872 | ClinVar Annotator: match by term: Hageman factor deficiency | ClinVar | | factor XII deficiency | | IAGP | RGD:11585862 | 8554872 | ClinVar Annotator: match by term: Hageman factor deficiency | ClinVar | | factor XII deficiency | | IAGP | RGD:11589542 | 8554872 | ClinVar Annotator: match by term: Hageman factor deficiency | ClinVar | | factor XII deficiency | | IAGP | RGD:11591910 | 8554872 | ClinVar Annotator: match by term: Hageman factor deficiency | ClinVar | | factor XII deficiency | | IAGP | RGD:11587175 | 8554872 | ClinVar Annotator: match by term: Hageman factor deficiency | ClinVar | | factor XII deficiency | | IAGP | RGD:11665844 | 8554872 | ClinVar Annotator: match by term: Hageman factor deficiency | ClinVar | | factor XII deficiency | | IAGP | RGD:11665550 | 8554872 | ClinVar Annotator: match by term: Hageman factor deficiency | ClinVar | | factor XII deficiency | | IAGP | RGD:11666121 | 8554872 | ClinVar Annotator: match by term: Hageman factor deficiency | ClinVar | | factor XII deficiency | | IAGP | RGD:11665673 | 8554872 | ClinVar Annotator: match by term: Hageman factor deficiency | ClinVar | | factor XII deficiency | | IAGP | RGD:11665402 | 8554872 | ClinVar Annotator: match by term: Factor XII deficiency disease | ClinVar | PMID:25050900 more ... | factor XII deficiency | | IAGP | RGD:11666044 | 8554872 | ClinVar Annotator: match by term: Hageman factor deficiency | ClinVar | | hereditary angioedema | | IAGP | RGD:8556011 | 8554872 | ClinVar Annotator: match by term: Hereditary angioneurotic edema | ClinVar | PMID:10984376 more ... | hereditary angioedema | | IAGP | RGD:11547288 | 8554872 | ClinVar Annotator: match by term: Hereditary angioneurotic edema | ClinVar | PMID:24033266 more ... | hereditary angioedema | | IAGP | RGD:11665667 | 8554872 | ClinVar Annotator: match by term: Hereditary angioneurotic edema | ClinVar | PMID:28492532 | hereditary angioedema | | IAGP | RGD:11665685 | 8554872 | ClinVar Annotator: match by term: Hereditary angioneurotic edema | ClinVar | PMID:28492532 | hereditary angioedema | | IAGP | RGD:11666225 | 8554872 | ClinVar Annotator: match by term: Hereditary Angioedema | ClinVar | PMID:28492532 | hereditary angioedema | | IAGP | RGD:11666274 | 8554872 | ClinVar Annotator: match by term: Hereditary Angioedema | ClinVar | PMID:28492532 | hereditary angioedema | | IAGP | RGD:11665495 | 8554872 | ClinVar Annotator: match by term: Hereditary Angioedema | ClinVar | PMID:28492532 | hereditary angioedema | | IAGP | RGD:11665756 | 8554872 | ClinVar Annotator: match by term: Hereditary angioneurotic edema | ClinVar | PMID:28492532 | hereditary angioedema | | IAGP | RGD:11665871 | 8554872 | ClinVar Annotator: match by term: Hereditary Angioedema | ClinVar | | hereditary angioedema | | IAGP | RGD:11665587 | 8554872 | ClinVar Annotator: match by term: Hereditary Angioedema | ClinVar | | hereditary angioedema | | IAGP | RGD:11665844 | 8554872 | ClinVar Annotator: match by term: Hereditary Angioedema | ClinVar | | hereditary angioedema | | IAGP | RGD:11665550 | 8554872 | ClinVar Annotator: match by term: Hereditary Angioedema | ClinVar | | hereditary angioedema | | IAGP | RGD:11666121 | 8554872 | ClinVar Annotator: match by term: Hereditary Angioedema | ClinVar | | hereditary angioedema | | IAGP | RGD:11665673 | 8554872 | ClinVar Annotator: match by term: Hereditary Angioedema | ClinVar | | hereditary angioedema | | IAGP | RGD:11665402 | 8554872 | ClinVar Annotator: match by term: Hereditary angioneurotic edema | ClinVar | PMID:25050900 more ... | hereditary angioedema | | IAGP | RGD:11666044 | 8554872 | ClinVar Annotator: match by term: Hereditary Angioedema | ClinVar | | hereditary angioedema type I | | IAGP | RGD:11665402 | 8554872 | ClinVar Annotator: match by term: Hereditary angioneurotic edema | ClinVar | PMID:25050900 more ... | hereditary angioedema type I | | IAGP | RGD:8556011 | 8554872 | ClinVar Annotator: match by term: Hereditary angioneurotic edema | ClinVar | PMID:10984376 more ... | hereditary angioedema type I | | IAGP | RGD:11665587 | 8554872 | ClinVar Annotator: match by term: Hereditary angioneurotic edema | ClinVar | | hereditary angioedema type I | | IAGP | RGD:11666121 | 8554872 | ClinVar Annotator: match by term: Hereditary angioneurotic edema | ClinVar | | hereditary angioedema type I | | IAGP | RGD:11665673 | 8554872 | ClinVar Annotator: match by term: Hereditary angioneurotic edema | ClinVar | | hereditary angioedema type I | | IAGP | RGD:11665495 | 8554872 | ClinVar Annotator: match by term: Hereditary angioneurotic edema | ClinVar | PMID:28492532 | hereditary angioedema type I | | IAGP | RGD:11666225 | 8554872 | ClinVar Annotator: match by term: Hereditary angioneurotic edema | ClinVar | PMID:28492532 | hereditary angioedema type I | | IAGP | RGD:11665844 | 8554872 | ClinVar Annotator: match by term: Hereditary angioneurotic edema | ClinVar | | hereditary angioedema type I | | IAGP | RGD:11666274 | 8554872 | ClinVar Annotator: match by term: Hereditary angioneurotic edema | ClinVar | PMID:28492532 | hereditary angioedema type I | | IAGP | RGD:11665871 | 8554872 | ClinVar Annotator: match by term: Hereditary angioneurotic edema | ClinVar | | hereditary angioedema type I | | IAGP | RGD:11666044 | 8554872 | ClinVar Annotator: match by term: Hereditary angioneurotic edema | ClinVar | | hereditary angioedema type I | | IAGP | RGD:11665550 | 8554872 | ClinVar Annotator: match by term: Hereditary angioneurotic edema | ClinVar | | hereditary angioedema type I | | IAGP | RGD:11547288 | 8554872 | ClinVar Annotator: match by term: Hereditary angioneurotic edema | ClinVar | PMID:24033266 more ... | hereditary angioedema type I | | IAGP | RGD:11665667 | 8554872 | ClinVar Annotator: match by term: Hereditary angioneurotic edema | ClinVar | PMID:28492532 | hereditary angioedema type I | | IAGP | RGD:11665685 | 8554872 | ClinVar Annotator: match by term: Hereditary angioneurotic edema | ClinVar | PMID:28492532 | hereditary angioedema type I | | IAGP | RGD:11665756 | 8554872 | ClinVar Annotator: match by term: Hereditary angioneurotic edema | ClinVar | PMID:28492532 | hereditary angioedema type III | | IAGP | RGD:28890470 | 8554872 | ClinVar Annotator: match by term: Hereditary angioedema, type III | ClinVar | | hereditary angioedema type III | | IAGP | RGD:8556011 | 8554872 | ClinVar Annotator: match by term: Hereditary angioedema, type III | ClinVar | PMID:10984376 more ... | hereditary angioedema type III | | IAGP | RGD:150332432 | 8554872 | ClinVar Annotator: match by term: Hereditary angioedema, type III | ClinVar | PMID:25741868 | hereditary angioedema type III | | IAGP | RGD:28904254 | 8554872 | ClinVar Annotator: match by term: Hereditary angioedema, type III | ClinVar | | hereditary angioedema type III | | IAGP | RGD:28890464 | 8554872 | ClinVar Annotator: match by term: Hereditary angioedema, type III | ClinVar | | hereditary angioedema type III | | IAGP | RGD:28890172 | 8554872 | ClinVar Annotator: match by term: Hereditary angioedema, type III | ClinVar | | hereditary angioedema type III | | IAGP | RGD:28900387 | 8554872 | ClinVar Annotator: match by term: Hereditary angioedema, type III | ClinVar | | hereditary angioedema type III | | IAGP | RGD:28904044 | 8554872 | ClinVar Annotator: match by term: Hereditary angioedema, type III | ClinVar | | hereditary angioedema type III | | IAGP | RGD:11547288 | 8554872 | ClinVar Annotator: match by term: Hereditary angioedema, type III | ClinVar | PMID:24033266 more ... | hereditary angioedema type III | | IAGP | RGD:11585015 | 8554872 | ClinVar Annotator: match by term: Hereditary angioedema, type III | ClinVar | PMID:28492532 | hereditary angioedema type III | | IAGP | RGD:11550865 | 8554872 | ClinVar Annotator: match by term: Hereditary angioedema, type III | ClinVar | PMID:24033266 more ... | hereditary angioedema type III | | IAGP | RGD:11593386 | 8554872 | ClinVar Annotator: match by term: Hereditary angioedema, type III | ClinVar | PMID:25741868, PMID:28492532 | hereditary angioedema type III | | IAGP | RGD:11582978 | 8554872 | ClinVar Annotator: match by term: Hereditary angioedema, type III | ClinVar | PMID:28492532 | hereditary angioedema type III | | IAGP | RGD:11589171 | 8554872 | ClinVar Annotator: match by term: Hereditary angioedema, type III | ClinVar | PMID:25741868, PMID:28492532 | hereditary angioedema type III | | IAGP | RGD:150441757 | 8554872 | ClinVar Annotator: match by term: Hereditary angioedema, type III | ClinVar | PMID:25741868, PMID:28492532 | hereditary angioedema type III | | IAGP | RGD:40888468 | 8554872 | ClinVar Annotator: match by term: Hereditary angioedema, type III | ClinVar | PMID:25741868, PMID:28492532 | hereditary angioedema type III | | IAGP | RGD:11665685 | 8554872 | ClinVar Annotator: match by term: Hereditary angioedema, type III | ClinVar | PMID:28492532 | hereditary angioedema type III | | IAGP | RGD:8556012 | 8554872 | ClinVar Annotator: match by term: Hereditary angioedema, type III | ClinVar | PMID:16638441, PMID:25741868 | hereditary angioedema type III | | IAGP | RGD:11584156 | 8554872 | ClinVar Annotator: match by term: Hereditary angioedema, type III | ClinVar | PMID:28492532 | hereditary angioedema type III | | IAGP | RGD:28890181 | 8554872 | ClinVar Annotator: match by term: Hereditary angioedema, type III | ClinVar | | hereditary angioedema type III | | IAGP | RGD:11652484 | 8554872 | ClinVar Annotator: match by term: Hereditary angioedema, type III | ClinVar | | hereditary angioedema type III | | IAGP | RGD:28890727 | 8554872 | ClinVar Annotator: match by term: Hereditary angioedema, type III | ClinVar | | hereditary angioedema type III | | IAGP | RGD:11595410 | 8554872 | ClinVar Annotator: match by term: Hereditary angioedema, type III | ClinVar | | hereditary angioedema type III | | IAGP | RGD:28904471 | 8554872 | ClinVar Annotator: match by term: Hereditary angioedema, type III | ClinVar | | hereditary angioedema type III | | IAGP | RGD:8556009 | 8554872 | ClinVar Annotator: match by term: Hereditary angioedema, type III | ClinVar | PMID:11843842 more ... | hereditary angioedema type III | | IAGP | RGD:11587175 | 8554872 | ClinVar Annotator: match by term: Hereditary angioedema, type III | ClinVar | | hereditary angioedema type III | | IAGP | RGD:11589542 | 8554872 | ClinVar Annotator: match by term: Hereditary angioedema, type III | ClinVar | | hereditary angioedema type III | | IAGP | RGD:8556010 | 8554872 | ClinVar Annotator: match by term: Hereditary angioedema, type III | ClinVar | PMID:10361128 | hereditary angioedema type III | | IAGP | RGD:28890175 | 8554872 | ClinVar Annotator: match by term: Hereditary angioedema, type III | ClinVar | | hereditary angioedema type III | | IAGP | RGD:28904473 | 8554872 | ClinVar Annotator: match by term: Hereditary angioedema, type III | ClinVar | | hereditary angioedema type III | | IAGP | RGD:11657907 | 8554872 | ClinVar Annotator: match by term: Hereditary angioedema, type III | ClinVar | | hereditary angioedema type III | | IAGP | RGD:11665587 | 8554872 | ClinVar Annotator: match by term: Hereditary angioedema, type III | ClinVar | | hereditary angioedema type III | | IAGP | RGD:28890722 | 8554872 | ClinVar Annotator: match by term: Hereditary angioedema, type III | ClinVar | | hereditary angioedema type III | | IAGP | RGD:11587393 | 8554872 | ClinVar Annotator: match by term: Hereditary angioedema, type III | ClinVar | | hereditary angioedema type III | | IAGP | RGD:11586457 | 8554872 | ClinVar Annotator: match by term: ESTROGEN-RELATED HAE | ClinVar | PMID:19786295 | hereditary angioedema type III | | IAGP | RGD:11665495 | 8554872 | ClinVar Annotator: match by term: Hereditary angioedema, type III | ClinVar | PMID:28492532 | hereditary angioedema type III | | IAGP | RGD:11590515 | 8554872 | ClinVar Annotator: match by term: Hereditary angioedema, type III | ClinVar | | hereditary angioedema type III | | IAGP | RGD:11585862 | 8554872 | ClinVar Annotator: match by term: Hereditary angioedema, type III | ClinVar | | hereditary angioedema type III | | IAGP | RGD:11666274 | 8554872 | ClinVar Annotator: match by term: Hereditary angioedema, type III | ClinVar | PMID:28492532 | hereditary angioedema type III | | IAGP | RGD:11591910 | 8554872 | ClinVar Annotator: match by term: Hereditary angioedema, type III | ClinVar | | hereditary angioedema type III | | IAGP | RGD:11583726 | 8554872 | ClinVar Annotator: match by term: Hereditary angioedema, type III | ClinVar | PMID:25741868 | hereditary angioedema type III | | IAGP | RGD:11590787 | 8554872 | ClinVar Annotator: match by term: Hereditary angioedema, type III | ClinVar | PMID:25741868, PMID:28492532 | hereditary angioedema type III | | IAGP | RGD:40888466 | 8554872 | ClinVar Annotator: match by term: Hereditary angioedema, type III | ClinVar | PMID:25741868 | hereditary angioedema type III | | IAGP | RGD:13443119 | 8554872 | ClinVar Annotator: match by term: Hereditary angioedema, type III | ClinVar | PMID:27130860 | hereditary angioedema type III | | IAGP | RGD:12880502 | 8554872 | ClinVar Annotator: match by term: Hereditary angioedema, type III | ClinVar | | hereditary angioedema type III | | IAGP | RGD:40888465 | 8554872 | ClinVar Annotator: match by term: Hereditary angioedema, type III | ClinVar | PMID:25741868 | hereditary angioedema type III | | IAGP | RGD:40888469 | 8554872 | ClinVar Annotator: match by term: ESTROGEN-SENSITIVE HAE | ClinVar | PMID:25741868 | hereditary angioedema type III | | IAGP | RGD:40888467 | 8554872 | ClinVar Annotator: match by term: Hereditary angioedema, type III | ClinVar | PMID:25741868 | hereditary angioedema type III | | IAGP | RGD:28893693 | 8554872 | ClinVar Annotator: match by term: Hereditary angioedema, type III | ClinVar | PMID:18974842 more ... | hereditary angioedema type III | | IAGP | RGD:28890717 | 8554872 | ClinVar Annotator: match by term: Hereditary angioedema, type III | ClinVar | | hypertension | | IAGP | RGD:8556012 | 8554872 | ClinVar Annotator: match by term: High blood pressure | ClinVar | PMID:16638441, PMID:25741868 | hypophosphatemic nephrolithiasis/osteoporosis | | IAGP | RGD:11665587 | 8554872 | ClinVar Annotator: match by term: Hypophosphatemic Nephrolithiasis/Osteoporosis | ClinVar | | hypophosphatemic nephrolithiasis/osteoporosis | | IAGP | RGD:8595332 | 8554872 | ClinVar Annotator: match by term: Nephrolithiasis/osteoporosis, hypophosphatemic | ClinVar | PMID:17576681 more ... | hypophosphatemic nephrolithiasis/osteoporosis | | IAGP | RGD:11665667 | 8554872 | ClinVar Annotator: match by term: Nephrolithiasis/osteoporosis, hypophosphatemic | ClinVar | PMID:28492532 | hypophosphatemic nephrolithiasis/osteoporosis | | IAGP | RGD:11547288 | 8554872 | ClinVar Annotator: match by term: Nephrolithiasis/osteoporosis, hypophosphatemic | ClinVar | PMID:24033266 more ... | hypophosphatemic nephrolithiasis/osteoporosis | | IAGP | RGD:11665685 | 8554872 | ClinVar Annotator: match by term: Nephrolithiasis/osteoporosis, hypophosphatemic | ClinVar | PMID:28492532 | hypophosphatemic nephrolithiasis/osteoporosis | | IAGP | RGD:11666225 | 8554872 | ClinVar Annotator: match by term: Hypophosphatemic Nephrolithiasis/Osteoporosis | ClinVar | PMID:28492532 | hypophosphatemic nephrolithiasis/osteoporosis | | IAGP | RGD:11666274 | 8554872 | ClinVar Annotator: match by term: Hypophosphatemic Nephrolithiasis/Osteoporosis | ClinVar | PMID:28492532 | hypophosphatemic nephrolithiasis/osteoporosis | | IAGP | RGD:11665495 | 8554872 | ClinVar Annotator: match by term: Hypophosphatemic Nephrolithiasis/Osteoporosis | ClinVar | PMID:28492532 | hypophosphatemic nephrolithiasis/osteoporosis | | IAGP | RGD:11665756 | 8554872 | ClinVar Annotator: match by term: Nephrolithiasis/osteoporosis, hypophosphatemic | ClinVar | PMID:28492532 | hypophosphatemic nephrolithiasis/osteoporosis | | IAGP | RGD:11666044 | 8554872 | ClinVar Annotator: match by term: Hypophosphatemic Nephrolithiasis/Osteoporosis | ClinVar | | hypophosphatemic nephrolithiasis/osteoporosis | | IAGP | RGD:11665871 | 8554872 | ClinVar Annotator: match by term: Hypophosphatemic Nephrolithiasis/Osteoporosis | ClinVar | | hypophosphatemic nephrolithiasis/osteoporosis | | IAGP | RGD:11665844 | 8554872 | ClinVar Annotator: match by term: Hypophosphatemic Nephrolithiasis/Osteoporosis | ClinVar | | hypophosphatemic nephrolithiasis/osteoporosis | | IAGP | RGD:11665402 | 8554872 | ClinVar Annotator: match by term: Nephrolithiasis/osteoporosis, hypophosphatemic | ClinVar | PMID:25050900 more ... | hypophosphatemic nephrolithiasis/osteoporosis | | IAGP | RGD:11665550 | 8554872 | ClinVar Annotator: match by term: Hypophosphatemic Nephrolithiasis/Osteoporosis | ClinVar | | hypophosphatemic nephrolithiasis/osteoporosis 1 | | IAGP | RGD:11665402 | 8554872 | ClinVar Annotator: match by term: Nephrolithiasis/osteoporosis more ... | ClinVar | PMID:25050900 more ... | hypophosphatemic nephrolithiasis/osteoporosis 1 | | IAGP | RGD:11665667 | 8554872 | ClinVar Annotator: match by term: Hypophosphatemic nephrolithiasis/osteoporosis 1 | ClinVar | PMID:28492532 | hypophosphatemic nephrolithiasis/osteoporosis 1 | | IAGP | RGD:11666044 | 8554872 | ClinVar Annotator: match by term: Nephrolithiasis/osteoporosis more ... | ClinVar | | hypophosphatemic nephrolithiasis/osteoporosis 1 | | IAGP | RGD:11665844 | 8554872 | ClinVar Annotator: match by term: Nephrolithiasis/osteoporosis more ... | ClinVar | | hypophosphatemic nephrolithiasis/osteoporosis 1 | | IAGP | RGD:11666225 | 8554872 | ClinVar Annotator: match by term: Nephrolithiasis/osteoporosis more ... | ClinVar | PMID:28492532 | hypophosphatemic nephrolithiasis/osteoporosis 1 | | IAGP | RGD:11665550 | 8554872 | ClinVar Annotator: match by term: Nephrolithiasis/osteoporosis more ... | ClinVar | | hypophosphatemic nephrolithiasis/osteoporosis 1 | | IAGP | RGD:11665871 | 8554872 | ClinVar Annotator: match by term: Nephrolithiasis/osteoporosis more ... | ClinVar | | hypophosphatemic nephrolithiasis/osteoporosis 1 | | IAGP | RGD:11665756 | 8554872 | ClinVar Annotator: match by term: Nephrolithiasis/osteoporosis more ... | ClinVar | PMID:28492532 | Marfanoid Mental Retardation Syndrome, Autosomal | | IAGP | RGD:14977181 | 8554872 | ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability | ClinVar | PMID:25741868 | urticaria | | IAGP | RGD:8556012 | 8554872 | ClinVar Annotator: match by term: Hives | ClinVar | PMID:16638441, PMID:25741868 | |
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References
References - curated
| 1. | Bach J, etal., J Thromb Haemost. 2008 Feb;6(2):291-6. Epub 2007 Nov 15. |
| 2. | Bork K, etal., Clin Immunol. 2011 Oct;141(1):31-5. doi: 10.1016/j.clim.2011.07.002. Epub 2011 Jul 30. |
| 3. | Cugno M, etal., Blood. 1997 May 1;89(9):3213-8. |
| 4. | Dendrinos S, etal., J Reprod Med. 2014 Jan-Feb;59(1-2):56-62. |
| 5. | Dewald G and Bork K, Biochem Biophys Res Commun. 2006 May 19;343(4):1286-9. |
| 6. | Ebbesen LS and Ingerslev J, J Nutr. 2005 Aug;135(8):1836-40. |
| 7. | Endler G, etal., J Thromb Haemost. 2007 Jun;5(6):1143-8. |
| 8. | Endler G, etal., Thromb Res. 2001 Feb 15;101(4):255-60. |
| 9. | Galanaud JP, etal., J Thromb Haemost. 2010 Apr;8(4):707-13. doi: 10.1111/j.1538-7836.2010.03770.x. Epub 2010 Feb 6. |
| 10. | GOA_HUMAN data from the GO Consortium |
| 11. | Kleinschnitz C, etal., J Exp Med. 2006 Mar 20;203(3):513-8. Epub 2006 Mar 13. |
| 12. | Knobl P, etal., Thromb Haemost. 1994 Jun;71(6):692-7. |
| 13. | Kwon MJ, etal., Blood Coagul Fibrinolysis. 2010 Jun;21(4):308-12. doi: 10.1097/MBC.0b013e32833449df. |
| 14. | Miyata T, etal., Proc Natl Acad Sci U S A. 1989 Nov;86(21):8319-22. |
| 15. | Mordillo C, etal., Haematologica. 2007 Nov;92(11):1569-72. |
| 16. | Moreau ME, etal., J Pharmacol Sci. 2005 Sep;99(1):6-38. |
| 17. | Nobukata H, etal., Toxicol Lett. 1999 Jan 11;104(1-2):93-101. |
| 18. | Norris LA, Best Pract Res Clin Obstet Gynaecol. 2003 Jun;17(3):369-83. |
| 19. | OMIM Disease Annotation Pipeline |
| 20. | Pipeline to import KEGG annotations from KEGG into RGD |
| 21. | Pipeline to import SMPDB annotations from SMPDB into RGD |
| 22. | Renne T, etal., J Exp Med. 2005 Jul 18;202(2):271-81. Epub 2005 Jul 11. |
| 23. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 24. | RGD automated import pipeline for gene-chemical interactions |
| 25. | RGD automated import pipeline for human HPO-to-gene-to-disease annotations |
| 26. | Roldan V, etal., Thromb Haemost. 2005 Dec;94(6):1294-9. |
| 27. | Santamaria A, etal., Stroke. 2004 Aug;35(8):1795-9. Epub 2004 Jul 1. |
| 28. | Smith SA, etal., Crit Rev Biochem Mol Biol. 2015;50(4):326-36. doi: 10.3109/10409238.2015.1050550. Epub 2015 May 28. |
| 29. | Tirado I, etal., Thromb Haemost. 2004 May;91(5):899-904. |
| 30. | Yamaguchi K, etal., Shock. 2000 Nov;14(5):535-43. |
Additional References at PubMed
| PMID:89876 | PMID:1544894 | PMID:1998666 | PMID:2882793 | PMID:2888762 | PMID:3011063 | PMID:3162339 | PMID:3198120 | PMID:3361230 | PMID:3521732 | PMID:3754331 | PMID:3877053 |
| PMID:3886654 | PMID:4140832 | PMID:6604055 | PMID:6793628 | PMID:8049433 | PMID:8528215 | PMID:8641707 | PMID:8665943 | PMID:8710908 | PMID:9354665 | PMID:9490684 | PMID:10361128 |
| PMID:10801853 | PMID:10930399 | PMID:11204562 | PMID:11589915 | PMID:11776307 | PMID:11792853 | PMID:11805911 | PMID:11821096 | PMID:11843842 | PMID:12052484 | PMID:12208481 | PMID:12477932 |
| PMID:12492481 | PMID:12876626 | PMID:14597972 | PMID:14718574 | PMID:14760718 | PMID:15000805 | PMID:15205584 | PMID:15257949 | PMID:15306750 | PMID:15567455 | PMID:15617741 | PMID:15748262 |
| PMID:15749685 | PMID:16015420 | PMID:16157382 | PMID:16167952 | PMID:16170239 | PMID:16199891 | PMID:16335952 | PMID:16493494 | PMID:17139385 | PMID:17143557 | PMID:17186468 | PMID:17408404 |
| PMID:17605651 | PMID:17825897 | PMID:17982641 | PMID:18180442 | PMID:18278180 | PMID:18327401 | PMID:18441012 | PMID:18710647 | PMID:18725990 | PMID:18765660 | PMID:18793325 | PMID:18832903 |
| PMID:18838541 | PMID:18974842 | PMID:19127083 | PMID:19178407 | PMID:19178938 | PMID:19204433 | PMID:19372376 | PMID:19415820 | PMID:19420105 | PMID:19422815 | PMID:19448530 | PMID:19474702 |
| PMID:19477491 | PMID:19578796 | PMID:19625260 | PMID:19646235 | PMID:19647418 | PMID:19698288 | PMID:19786295 | PMID:19809305 | PMID:19878657 | PMID:19913121 | PMID:19933701 | PMID:19933990 |
| PMID:20022356 | PMID:20142324 | PMID:20143645 | PMID:20228268 | PMID:20303064 | PMID:20383146 | PMID:20452482 | PMID:20532885 | PMID:20589311 | PMID:20628086 | PMID:20673868 | PMID:20729721 |
| PMID:20814302 | PMID:21071604 | PMID:21071930 | PMID:21192253 | PMID:21264442 | PMID:21297451 | PMID:21304106 | PMID:21512133 | PMID:21546496 | PMID:21631522 | PMID:21828145 | PMID:21873635 |
| PMID:22286219 | PMID:22396660 | PMID:22500857 | PMID:22703881 | PMID:22905925 | PMID:22916037 | PMID:22920075 | PMID:22993391 | PMID:23376485 | PMID:23381795 | PMID:23533145 | PMID:23659638 |
| PMID:23692437 | PMID:23849223 | PMID:23874198 | PMID:23896408 | PMID:23994767 | PMID:24388213 | PMID:24509324 | PMID:24691729 | PMID:24733030 | PMID:24816252 | PMID:24855058 | PMID:24977287 |
| PMID:25037231 | PMID:25113305 | PMID:25134986 | PMID:25241761 | PMID:25489738 | PMID:25589788 | PMID:25604127 | PMID:25609114 | PMID:25744496 | PMID:25775543 | PMID:25790805 | PMID:25800206 |
| PMID:25816745 | PMID:25879167 | PMID:26037346 | PMID:26105808 | PMID:26153047 | PMID:26153520 | PMID:26186194 | PMID:26193639 | PMID:26248961 | PMID:26286125 | PMID:26392288 | PMID:26613657 |
| PMID:26706311 | PMID:26709783 | PMID:26969407 | PMID:27003566 | PMID:27188843 | PMID:27282310 | PMID:27694320 | PMID:27788882 | PMID:27933406 | PMID:28069606 | PMID:28346966 | PMID:28433996 |
| PMID:28514442 | PMID:28514863 | PMID:28661939 | PMID:28743596 | PMID:28816340 | PMID:29075790 | PMID:29376892 | PMID:29419864 | PMID:29587641 | PMID:29885370 | PMID:29994896 | PMID:29994899 |
| PMID:30354195 | PMID:30394658 | PMID:30512149 | PMID:30591525 | PMID:30705246 | PMID:30929639 | PMID:31124034 | PMID:31181367 | PMID:31279063 | PMID:31334892 | PMID:31771982 | PMID:31924766 |
| PMID:31984663 | PMID:32335876 | PMID:32814053 | PMID:33036649 | PMID:33412399 | PMID:33961781 |
Genomics
