Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Acute Coronary Syndrome | | ISO | RGD:8556009 | 9068941 | ClinVar Annotator: match by term: FACTOR XII POLYMORPHISM | ClinVar | PMID:11843842 more ... | angioedema | | ISO | RGD:8556012 | 9068941 | ClinVar Annotator: match by term: Quincke edema | ClinVar | PMID:16638441, PMID:25741868 | bilirubin metabolic disorder | | ISO | RGD:8556012 | 9068941 | ClinVar Annotator: match by term: Hyperbilirubinemia | ClinVar | PMID:16638441, PMID:25741868 | C1 inhibitor deficiency | | ISO | RGD:8556012 | 9068941 | ClinVar Annotator: match by term: Quincke edema | ClinVar | PMID:16638441, PMID:25741868 | factor XII deficiency | | ISO | RGD:11585862 | 9068941 | ClinVar Annotator: match by term: Hageman factor deficiency | ClinVar | | factor XII deficiency | | ISO | RGD:28904471 | 9068941 | ClinVar Annotator: match by term: Factor 12 deficiency | ClinVar | | factor XII deficiency | | ISO | RGD:8556011 | 9068941 | ClinVar Annotator: match by term: Hageman factor deficiency | ClinVar | PMID:10984376 more ... | factor XII deficiency | | ISO | RGD:11665756 | 9068941 | ClinVar Annotator: match by term: Hageman factor deficiency | ClinVar | | factor XII deficiency | | ISO | RGD:11587393 | 9068941 | ClinVar Annotator: match by term: Hageman factor deficiency | ClinVar | | factor XII deficiency | | ISO | RGD:8595332 | 9068941 | ClinVar Annotator: match by term: Factor 12 deficiency | ClinVar | PMID:21920016 more ... | factor XII deficiency | | ISO | RGD:28890727 | 9068941 | ClinVar Annotator: match by term: Factor 12 deficiency | ClinVar | | factor XII deficiency | | ISO | RGD:28890172 | 9068941 | ClinVar Annotator: match by term: Factor XII deficiency disease | ClinVar | | factor XII deficiency | | ISO | RGD:11547288 | 9068941 | ClinVar Annotator: match by term: Hageman factor deficiency | ClinVar | PMID:24033266, PMID:25741868 | factor XII deficiency | | ISO | RGD:28890181 | 9068941 | ClinVar Annotator: match by term: Factor 12 deficiency | ClinVar | | factor XII deficiency | | ISO | RGD:28890722 | 9068941 | ClinVar Annotator: match by term: Factor 12 deficiency | ClinVar | | factor XII deficiency | | ISO | RGD:11666225 | 9068941 | ClinVar Annotator: match by term: Factor XII deficiency | ClinVar | PMID:28492532 | factor XII deficiency | | ISO | RGD:11665673 | 9068941 | ClinVar Annotator: match by term: Hageman factor deficiency | ClinVar | | factor XII deficiency | | ISO | RGD:11550865 | 9068941 | ClinVar Annotator: match by term: Hageman factor deficiency | ClinVar | PMID:24033266, PMID:25741868 | factor XII deficiency | | ISO | RGD:11665844 | 9068941 | ClinVar Annotator: match by term: Hageman factor deficiency | ClinVar | | factor XII deficiency | | ISO | RGD:28890175 | 9068941 | ClinVar Annotator: match by term: Factor 12 deficiency | ClinVar | | factor XII deficiency | | ISO | RGD:11665667 | 9068941 | ClinVar Annotator: match by term: Hageman factor deficiency | ClinVar | | factor XII deficiency | | ISO | RGD:11589542 | 9068941 | ClinVar Annotator: match by term: Hageman factor deficiency | ClinVar | | factor XII deficiency | | ISO | RGD:28904254 | 9068941 | ClinVar Annotator: match by term: Factor XII deficiency disease | ClinVar | | factor XII deficiency | | ISO | RGD:28890717 | 9068941 | ClinVar Annotator: match by term: Factor XII deficiency disease | ClinVar | | factor XII deficiency | | ISO | RGD:8556009 | 9068941 | ClinVar Annotator: match by term: Hageman factor deficiency | ClinVar | PMID:11843842 more ... | factor XII deficiency | | ISO | RGD:11587175 | 9068941 | ClinVar Annotator: match by term: Hageman factor deficiency | ClinVar | | factor XII deficiency | | ISO | RGD:8556010 | 9068941 | ClinVar Annotator: match by term: Factor XII deficiency disease | ClinVar | PMID:10361128 | factor XII deficiency | | ISO | RGD:28890470 | 9068941 | ClinVar Annotator: match by term: Factor XII deficiency disease | ClinVar | | factor XII deficiency | | ISO | RGD:28904473 | 9068941 | ClinVar Annotator: match by term: Factor 12 deficiency | ClinVar | | factor XII deficiency | | ISO | RGD:11666274 | 9068941 | ClinVar Annotator: match by term: Factor XII deficiency | ClinVar | PMID:28492532 | factor XII deficiency | | ISO | RGD:11590515 | 9068941 | ClinVar Annotator: match by term: Hageman factor deficiency | ClinVar | | factor XII deficiency | | ISO | RGD:11585015 | 9068941 | ClinVar Annotator: match by term: Hageman factor deficiency | ClinVar | | factor XII deficiency | | ISO | RGD:11586457 | 9068941 | ClinVar Annotator: match by term: Hageman factor deficiency | ClinVar | PMID:19786295 | factor XII deficiency | | ISO | RGD:11666121 | 9068941 | ClinVar Annotator: match by term: Hageman factor deficiency | ClinVar | | factor XII deficiency | | ISO | RGD:28904044 | 9068941 | ClinVar Annotator: match by term: Factor XII deficiency disease | ClinVar | | factor XII deficiency | | ISO | RGD:11582978 | 9068941 | ClinVar Annotator: match by term: Hageman factor deficiency | ClinVar | | factor XII deficiency | | ISO | RGD:11665550 | 9068941 | ClinVar Annotator: match by term: Hageman factor deficiency | ClinVar | | factor XII deficiency | | ISO | RGD:11665587 | 9068941 | ClinVar Annotator: match by term: Hageman factor deficiency | ClinVar | | factor XII deficiency | | ISO | RGD:11589171 | 9068941 | ClinVar Annotator: match by term: Factor 12 deficiency | ClinVar | PMID:25741868 | factor XII deficiency | | ISO | RGD:11652484 | 9068941 | ClinVar Annotator: match by term: Hageman factor deficiency | ClinVar | | factor XII deficiency | | ISO | RGD:11583726 | 9068941 | ClinVar Annotator: match by term: Factor 12 deficiency | ClinVar | PMID:25741868 | factor XII deficiency | | ISO | RGD:28900387 | 9068941 | ClinVar Annotator: match by term: Factor XII deficiency disease | ClinVar | | factor XII deficiency | | ISO | RGD:11657907 | 9068941 | ClinVar Annotator: match by term: Hageman factor deficiency | ClinVar | | factor XII deficiency | | ISO | RGD:11590787 | 9068941 | ClinVar Annotator: match by term: Factor 12 deficiency | ClinVar | PMID:25741868, PMID:28492532 | factor XII deficiency | | ISO | RGD:11593386 | 9068941 | ClinVar Annotator: match by term: Factor 12 deficiency | ClinVar | PMID:25741868 | factor XII deficiency | | ISO | RGD:28893693 | 9068941 | ClinVar Annotator: match by term: Factor XII deficiency disease | ClinVar | PMID:18974842 more ... | factor XII deficiency | | ISO | RGD:11665871 | 9068941 | ClinVar Annotator: match by term: Hageman factor deficiency | ClinVar | | factor XII deficiency | | ISO | RGD:28890464 | 9068941 | ClinVar Annotator: match by term: Factor XII deficiency disease | ClinVar | | factor XII deficiency | | ISO | RGD:11591910 | 9068941 | ClinVar Annotator: match by term: Hageman factor deficiency | ClinVar | | factor XII deficiency | | ISO | RGD:11584156 | 9068941 | ClinVar Annotator: match by term: Factor XII deficiency | ClinVar | PMID:28492532 | factor XII deficiency | | ISO | RGD:11665495 | 9068941 | ClinVar Annotator: match by term: Factor XII deficiency | ClinVar | PMID:28492532 | factor XII deficiency | | ISO | RGD:11665685 | 9068941 | ClinVar Annotator: match by term: Hageman factor deficiency | ClinVar | | factor XII deficiency | | ISO | RGD:11665402 | 9068941 | ClinVar Annotator: match by term: Hageman factor deficiency | ClinVar | | factor XII deficiency | | ISO | RGD:8556012 | 9068941 | ClinVar Annotator: match by term: Factor 12 deficiency | ClinVar | PMID:16638441, PMID:25741868 | factor XII deficiency | | ISO | RGD:11581264 | 9068941 | ClinVar Annotator: match by term: Hageman factor deficiency | ClinVar | PMID:21264442, PMID:25741868 | factor XII deficiency | | ISO | RGD:11666044 | 9068941 | ClinVar Annotator: match by term: Hageman factor deficiency | ClinVar | | factor XII deficiency | | ISO | RGD:11595410 | 9068941 | ClinVar Annotator: match by term: Hageman factor deficiency | ClinVar | | hereditary angioedema | | ISO | RGD:11665495 | 9068941 | ClinVar Annotator: match by term: Hereditary Angioedema | ClinVar | PMID:28492532 | hereditary angioedema | | ISO | RGD:11666044 | 9068941 | ClinVar Annotator: match by term: Hereditary Angioedema | ClinVar | | hereditary angioedema | | ISO | RGD:11665673 | 9068941 | ClinVar Annotator: match by term: Hereditary Angioedema | ClinVar | | hereditary angioedema | | ISO | RGD:11665844 | 9068941 | ClinVar Annotator: match by term: Hereditary Angioedema | ClinVar | | hereditary angioedema | | ISO | RGD:11665402 | 9068941 | ClinVar Annotator: match by term: Hereditary Angioedema | ClinVar | | hereditary angioedema | | ISO | RGD:11665685 | 9068941 | ClinVar Annotator: match by term: Hereditary Angioedema | ClinVar | | hereditary angioedema | | ISO | RGD:11665587 | 9068941 | ClinVar Annotator: match by term: Hereditary Angioedema | ClinVar | | hereditary angioedema | | ISO | RGD:11666225 | 9068941 | ClinVar Annotator: match by term: Hereditary Angioedema | ClinVar | PMID:28492532 | hereditary angioedema | | ISO | RGD:11666121 | 9068941 | ClinVar Annotator: match by term: Hereditary Angioedema | ClinVar | | hereditary angioedema | | ISO | RGD:11666274 | 9068941 | ClinVar Annotator: match by term: Hereditary Angioedema | ClinVar | PMID:28492532 | hereditary angioedema | | ISO | RGD:11665550 | 9068941 | ClinVar Annotator: match by term: Hereditary Angioedema | ClinVar | | hereditary angioedema | | ISO | RGD:11547288 | 9068941 | ClinVar Annotator: match by term: Hereditary Angioedema | ClinVar | PMID:24033266, PMID:25741868 | hereditary angioedema | | ISO | RGD:11665871 | 9068941 | ClinVar Annotator: match by term: Hereditary Angioedema | ClinVar | | hereditary angioedema | | ISO | RGD:8556011 | 9068941 | ClinVar Annotator: match by term: Angioedemas, Hereditary | ClinVar | PMID:10984376 more ... | hereditary angioedema | | ISO | RGD:11665667 | 9068941 | ClinVar Annotator: match by term: Hereditary Angioedema | ClinVar | | hereditary angioedema | | ISO | RGD:11665756 | 9068941 | ClinVar Annotator: match by term: Hereditary Angioedema | ClinVar | | Hereditary Angioedema Type III | | ISO | RGD:8556010 | 9068941 | ClinVar Annotator: match by term: Hereditary angioedema, type III | ClinVar | PMID:10361128 | Hereditary Angioedema Type III | | ISO | RGD:28890172 | 9068941 | ClinVar Annotator: match by term: Hereditary angioedema, type III | ClinVar | | Hereditary Angioedema Type III | | ISO | RGD:28904044 | 9068941 | ClinVar Annotator: match by term: Hereditary angioedema, type III | ClinVar | | Hereditary Angioedema Type III | | ISO | RGD:28890717 | 9068941 | ClinVar Annotator: match by term: Hereditary angioedema, type III | ClinVar | | Hereditary Angioedema Type III | | ISO | RGD:28900387 | 9068941 | ClinVar Annotator: match by term: Hereditary angioedema, type III | ClinVar | | Hereditary Angioedema Type III | | ISO | RGD:28890464 | 9068941 | ClinVar Annotator: match by term: Hereditary angioedema, type III | ClinVar | | Hereditary Angioedema Type III | | ISO | RGD:28890470 | 9068941 | ClinVar Annotator: match by term: Hereditary angioedema, type III | ClinVar | | Hereditary Angioedema Type III | | ISO | RGD:11585015 | 9068941 | ClinVar Annotator: match by term: Hereditary angioedema, type III | ClinVar | | Hereditary Angioedema Type III | | ISO | RGD:11547288 | 9068941 | ClinVar Annotator: match by term: Hereditary angioedema, type III | ClinVar | PMID:24033266, PMID:25741868 | Hereditary Angioedema Type III | | ISO | RGD:11665495 | 9068941 | ClinVar Annotator: match by term: Hereditary angioedema, type III | ClinVar | PMID:28492532 | Hereditary Angioedema Type III | | ISO | RGD:11590515 | 9068941 | ClinVar Annotator: match by term: Hereditary angioedema, type III | ClinVar | | Hereditary Angioedema Type III | | ISO | RGD:28890181 | 9068941 | ClinVar Annotator: match by term: Hereditary angioedema, type III | ClinVar | | Hereditary Angioedema Type III | | ISO | RGD:11587175 | 9068941 | ClinVar Annotator: match by term: Hereditary angioedema, type III | ClinVar | | Hereditary Angioedema Type III | | ISO | RGD:11666274 | 9068941 | ClinVar Annotator: match by term: Hereditary angioedema, type III | ClinVar | PMID:28492532 | Hereditary Angioedema Type III | | ISO | RGD:28890175 | 9068941 | ClinVar Annotator: match by term: Hereditary angioedema, type III | ClinVar | | Hereditary Angioedema Type III | | ISO | RGD:13443119 | 9068941 | ClinVar Annotator: match by term: Hereditary angioedema, type III | ClinVar | PMID:27130860 | Hereditary Angioedema Type III | | ISO | RGD:11584156 | 9068941 | ClinVar Annotator: match by term: Hereditary angioedema, type III | ClinVar | PMID:28492532 | Hereditary Angioedema Type III | | ISO | RGD:11587393 | 9068941 | ClinVar Annotator: match by term: Hereditary angioedema, type III | ClinVar | | Hereditary Angioedema Type III | | ISO | RGD:8556012 | 9068941 | ClinVar Annotator: match by term: Hereditary angioedema, type III | ClinVar | PMID:16638441, PMID:25741868 | Hereditary Angioedema Type III | | ISO | RGD:8556009 | 9068941 | ClinVar Annotator: match by term: Hereditary angioedema, type III | ClinVar | PMID:11843842 more ... | Hereditary Angioedema Type III | | ISO | RGD:11591910 | 9068941 | ClinVar Annotator: match by term: Hereditary angioedema, type III | ClinVar | | Hereditary Angioedema Type III | | ISO | RGD:11595410 | 9068941 | ClinVar Annotator: match by term: Hereditary angioedema, type III | ClinVar | | Hereditary Angioedema Type III | | ISO | RGD:11665685 | 9068941 | ClinVar Annotator: match by term: Hereditary angioedema, type III | ClinVar | | Hereditary Angioedema Type III | | ISO | RGD:28890722 | 9068941 | ClinVar Annotator: match by term: Hereditary angioedema, type III | ClinVar | | Hereditary Angioedema Type III | | ISO | RGD:28890727 | 9068941 | ClinVar Annotator: match by term: Hereditary angioedema, type III | ClinVar | | Hereditary Angioedema Type III | | ISO | RGD:12880502 | 9068941 | ClinVar Annotator: match by term: Hereditary angioedema, type III | ClinVar | | Hereditary Angioedema Type III | | ISO | RGD:11589542 | 9068941 | ClinVar Annotator: match by term: Hereditary angioedema, type III | ClinVar | | Hereditary Angioedema Type III | | ISO | RGD:8556011 | 9068941 | ClinVar Annotator: match by term: Hereditary angioedema, type III | ClinVar | PMID:10984376 more ... | Hereditary Angioedema Type III | | ISO | RGD:11652484 | 9068941 | ClinVar Annotator: match by term: Hereditary angioedema, type III | ClinVar | | Hereditary Angioedema Type III | | ISO | RGD:11585862 | 9068941 | ClinVar Annotator: match by term: Hereditary angioedema, type III | ClinVar | | Hereditary Angioedema Type III | | ISO | RGD:28893693 | 9068941 | ClinVar Annotator: match by term: Hereditary angioedema, type III | ClinVar | PMID:18974842 more ... | Hereditary Angioedema Type III | | ISO | RGD:11583726 | 9068941 | ClinVar Annotator: match by term: Hereditary angioedema, type III | ClinVar | PMID:25741868 | Hereditary Angioedema Type III | | ISO | RGD:11589171 | 9068941 | ClinVar Annotator: match by term: Hereditary angioedema, type III | ClinVar | PMID:25741868 | Hereditary Angioedema Type III | | ISO | RGD:11590787 | 9068941 | ClinVar Annotator: match by term: Hereditary angioedema, type III | ClinVar | PMID:25741868, PMID:28492532 | Hereditary Angioedema Type III | | ISO | RGD:40888467 | 9068941 | ClinVar Annotator: match by term: Hereditary angioedema, type III | ClinVar | PMID:25741868 | Hereditary Angioedema Type III | | ISO | RGD:40888469 | 9068941 | ClinVar Annotator: match by term: ESTROGEN-SENSITIVE HAE | ClinVar | PMID:25741868 | Hereditary Angioedema Type III | | ISO | RGD:11593386 | 9068941 | ClinVar Annotator: match by term: Hereditary angioedema, type III | ClinVar | PMID:25741868 | Hereditary Angioedema Type III | | ISO | RGD:40888466 | 9068941 | ClinVar Annotator: match by term: Hereditary angioedema, type III | ClinVar | PMID:25741868 | Hereditary Angioedema Type III | | ISO | RGD:11665587 | 9068941 | ClinVar Annotator: match by term: Hereditary angioedema, type III | ClinVar | | Hereditary Angioedema Type III | | ISO | RGD:40888468 | 9068941 | ClinVar Annotator: match by term: Hereditary angioedema, type III | ClinVar | PMID:25741868 | Hereditary Angioedema Type III | | ISO | RGD:28904254 | 9068941 | ClinVar Annotator: match by term: Hereditary angioedema, type III | ClinVar | | Hereditary Angioedema Type III | | ISO | RGD:40888465 | 9068941 | ClinVar Annotator: match by term: Hereditary angioedema, type III | ClinVar | PMID:25741868 | Hereditary Angioedema Type III | | ISO | RGD:11586457 | 9068941 | ClinVar Annotator: match by term: ESTROGEN-RELATED HAE | ClinVar | PMID:19786295 | Hereditary Angioedema Type III | | ISO | RGD:28904473 | 9068941 | ClinVar Annotator: match by term: Hereditary angioedema, type III | ClinVar | | Hereditary Angioedema Type III | | ISO | RGD:28904471 | 9068941 | ClinVar Annotator: match by term: Hereditary angioedema, type III | ClinVar | | Hereditary Angioedema Type III | | ISO | RGD:11657907 | 9068941 | ClinVar Annotator: match by term: Hereditary angioedema, type III | ClinVar | | Hereditary Angioedema Type III | | ISO | RGD:11582978 | 9068941 | ClinVar Annotator: match by term: Hereditary angioedema, type III | ClinVar | | Hereditary Angioedema Type III | | ISO | RGD:11550865 | 9068941 | ClinVar Annotator: match by term: Hereditary angioedema, type III | ClinVar | PMID:24033266, PMID:25741868 | Hereditary Angioedema Types I and II | | ISO | RGD:8556011 | 9068941 | ClinVar Annotator: match by term: Hereditary angioneurotic edema | ClinVar | PMID:10984376 more ... | Hereditary Angioedema Types I and II | | ISO | RGD:11665495 | 9068941 | ClinVar Annotator: match by term: Hereditary angioneurotic edema | ClinVar | PMID:28492532 | Hereditary Angioedema Types I and II | | ISO | RGD:11665844 | 9068941 | ClinVar Annotator: match by term: Hereditary angioneurotic edema | ClinVar | | Hereditary Angioedema Types I and II | | ISO | RGD:11666225 | 9068941 | ClinVar Annotator: match by term: Hereditary angioneurotic edema | ClinVar | PMID:28492532 | Hereditary Angioedema Types I and II | | ISO | RGD:11666044 | 9068941 | ClinVar Annotator: match by term: Hereditary angioneurotic edema | ClinVar | | Hereditary Angioedema Types I and II | | ISO | RGD:11547288 | 9068941 | ClinVar Annotator: match by term: Hereditary angioneurotic edema | ClinVar | PMID:24033266, PMID:25741868 | Hereditary Angioedema Types I and II | | ISO | RGD:11666274 | 9068941 | ClinVar Annotator: match by term: Hereditary angioneurotic edema | ClinVar | PMID:28492532 | Hereditary Angioedema Types I and II | | ISO | RGD:11665550 | 9068941 | ClinVar Annotator: match by term: Hereditary angioneurotic edema | ClinVar | | Hereditary Angioedema Types I and II | | ISO | RGD:11665402 | 9068941 | ClinVar Annotator: match by term: Hereditary angioneurotic edema | ClinVar | | Hereditary Angioedema Types I and II | | ISO | RGD:11666121 | 9068941 | ClinVar Annotator: match by term: Hereditary angioneurotic edema | ClinVar | | Hereditary Angioedema Types I and II | | ISO | RGD:11665667 | 9068941 | ClinVar Annotator: match by term: Hereditary angioneurotic edema | ClinVar | | Hereditary Angioedema Types I and II | | ISO | RGD:11665685 | 9068941 | ClinVar Annotator: match by term: Hereditary angioneurotic edema | ClinVar | | Hereditary Angioedema Types I and II | | ISO | RGD:11665871 | 9068941 | ClinVar Annotator: match by term: Hereditary angioneurotic edema | ClinVar | | Hereditary Angioedema Types I and II | | ISO | RGD:11665756 | 9068941 | ClinVar Annotator: match by term: Hereditary angioneurotic edema | ClinVar | | Hereditary Angioedema Types I and II | | ISO | RGD:11665673 | 9068941 | ClinVar Annotator: match by term: Hereditary angioneurotic edema | ClinVar | | Hereditary Angioedema Types I and II | | ISO | RGD:11665587 | 9068941 | ClinVar Annotator: match by term: Hereditary angioneurotic edema | ClinVar | | Hypercalcemia, Infantile, 1 | | ISO | RGD:38458688 | 9068941 | ClinVar Annotator: match by term: Idiopathic hypercalcemia of infancy | ClinVar | PMID:24033266 | hypertension | | ISO | RGD:8556012 | 9068941 | ClinVar Annotator: match by term: High blood pressure | ClinVar | PMID:16638441, PMID:25741868 | hypophosphatemic nephrolithiasis/osteoporosis | | ISO | RGD:11665667 | 9068941 | ClinVar Annotator: match by term: Hypophosphatemic Nephrolithiasis/Osteoporosis | ClinVar | | hypophosphatemic nephrolithiasis/osteoporosis | | ISO | RGD:11665844 | 9068941 | ClinVar Annotator: match by term: Hypophosphatemic Nephrolithiasis/Osteoporosis | ClinVar | | hypophosphatemic nephrolithiasis/osteoporosis | | ISO | RGD:11665495 | 9068941 | ClinVar Annotator: match by term: Hypophosphatemic Nephrolithiasis/Osteoporosis | ClinVar | PMID:28492532 | hypophosphatemic nephrolithiasis/osteoporosis | | ISO | RGD:11665871 | 9068941 | ClinVar Annotator: match by term: Hypophosphatemic Nephrolithiasis/Osteoporosis | ClinVar | | hypophosphatemic nephrolithiasis/osteoporosis | | ISO | RGD:11665587 | 9068941 | ClinVar Annotator: match by term: Hypophosphatemic Nephrolithiasis/Osteoporosis | ClinVar | | hypophosphatemic nephrolithiasis/osteoporosis | | ISO | RGD:11666225 | 9068941 | ClinVar Annotator: match by term: Hypophosphatemic Nephrolithiasis/Osteoporosis | ClinVar | PMID:28492532 | hypophosphatemic nephrolithiasis/osteoporosis | | ISO | RGD:11584768 | 9068941 | ClinVar Annotator: match by term: Hypophosphatemic Nephrolithiasis/Osteoporosis | ClinVar | | hypophosphatemic nephrolithiasis/osteoporosis | | ISO | RGD:11666044 | 9068941 | ClinVar Annotator: match by term: Hypophosphatemic Nephrolithiasis/Osteoporosis | ClinVar | | hypophosphatemic nephrolithiasis/osteoporosis | | ISO | RGD:11666274 | 9068941 | ClinVar Annotator: match by term: Hypophosphatemic Nephrolithiasis/Osteoporosis | ClinVar | PMID:28492532 | hypophosphatemic nephrolithiasis/osteoporosis | | ISO | RGD:11665756 | 9068941 | ClinVar Annotator: match by term: Hypophosphatemic Nephrolithiasis/Osteoporosis | ClinVar | | hypophosphatemic nephrolithiasis/osteoporosis | | ISO | RGD:8595332 | 9068941 | ClinVar Annotator: match by term: Hypophosphatemic Nephrolithiasis/Osteoporosis | ClinVar | PMID:21920016 more ... | hypophosphatemic nephrolithiasis/osteoporosis | | ISO | RGD:11665685 | 9068941 | ClinVar Annotator: match by term: Hypophosphatemic Nephrolithiasis/Osteoporosis | ClinVar | | hypophosphatemic nephrolithiasis/osteoporosis | | ISO | RGD:11665402 | 9068941 | ClinVar Annotator: match by term: Hypophosphatemic Nephrolithiasis/Osteoporosis | ClinVar | | hypophosphatemic nephrolithiasis/osteoporosis | | ISO | RGD:11665550 | 9068941 | ClinVar Annotator: match by term: Hypophosphatemic Nephrolithiasis/Osteoporosis | ClinVar | | hypophosphatemic nephrolithiasis/osteoporosis | | ISO | RGD:11547288 | 9068941 | ClinVar Annotator: match by term: Hypophosphatemic Nephrolithiasis/Osteoporosis | ClinVar | PMID:24033266, PMID:25741868 | Infantile Hypercalcemia | | ISO | RGD:38458688 | 9068941 | ClinVar Annotator: match by term: Hypercalcemia, infantile | ClinVar | PMID:24033266 | Marfanoid Mental Retardation Syndrome, Autosomal | | ISO | RGD:14977181 | 9068941 | ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability | ClinVar | PMID:25741868 | nephrocalcinosis | | ISO | RGD:11096512 | 9068941 | ClinVar Annotator: match by term: Nephrocalcinosis | ClinVar | PMID:26047794, PMID:28893421 | nephrocalcinosis | | ISO | RGD:13704987 | 9068941 | ClinVar Annotator: match by term: Nephrocalcinosis | ClinVar | PMID:28893421 | nephrocalcinosis | | ISO | RGD:13704989 | 9068941 | ClinVar Annotator: match by term: Nephrocalcinosis | ClinVar | PMID:28893421 | nephrocalcinosis | | ISO | RGD:11594373 | 9068941 | ClinVar Annotator: match by term: Nephrocalcinosis | ClinVar | PMID:16688119 more ... | nephrocalcinosis | | ISO | RGD:13704991 | 9068941 | ClinVar Annotator: match by term: Nephrocalcinosis | ClinVar | PMID:28893421 | prostate cancer | | ISO | RGD:9686923 | 9068941 | ClinVar Annotator: match by term: Prostate cancer | ClinVar | PMID:23265383 | urticaria | | ISO | RGD:8556012 | 9068941 | ClinVar Annotator: match by term: Hives | ClinVar | PMID:16638441, PMID:25741868 | |
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Variant Visualizer (Genomic Variants) |
 InterViewer (Protein-Protein Interactions) unavailable |
 Gviewer (Genome Viewer) unavailable |
 Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable |
InterViewer (Protein-Protein Interactions) |
GViewer (Genome Viewer) |
Variant Visualizer (Damaging Variants) |
 Gene Annotator (Annotation Comparison) unavailable |
 OLGA (Gene List Generator) unavailable |
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Gene Annotator (Annotation Comparison) |
OLGA (Gene List Generator) |
Excel (Download) |
 MOET (Multi-Ontology Enrichement) unavailable |
 GOLF (Gene-Ortholog Location Finder) unavailable |
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MOET (Multi-Ontology Enrichement) |
GOLF (Gene-Ortholog Location Finder) |
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Imported Disease Annotations - CTD
Imported Disease Annotations - OMIM
Gene Ontology Annotations Click to see Annotation Detail View
Biological Process
Cellular Component
Molecular Function
Molecular Pathway Annotations Click to see Annotation Detail View
RGD Manual Annotations
Disease Annotations
Click to see Annotation Detail View
Gene Ontology Annotations
Click to see Annotation Detail View
Biological Process
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Cellular Component
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Molecular Function
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References