Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | amenorrhea | | IAGP | RGD:151733290 | 8554872 | ClinVar Annotator: match by term: Amenorrhea | ClinVar | PMID:32870266 | amenorrhea | | IAGP | RGD:151733294 | 8554872 | ClinVar Annotator: match by term: Amenorrhea | ClinVar | PMID:32870266 | hyperphosphatemic familial tumoral calcinosis | | IAGP | RGD:11662769 | 8554872 | ClinVar Annotator: match by term: Tumoral calcinosis more ... | ClinVar | | Hyperphosphatemic Familial Tumoral Calcinosis 1 | | IAGP | RGD:8596773 | 8554872 | ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 | ClinVar | PMID:17710231 more ... | Hyperphosphatemic Familial Tumoral Calcinosis 1 | | IAGP | RGD:21072496 | 8554872 | ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 | ClinVar | | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:8596773 | 8554872 | ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 3 | ClinVar | PMID:17710231 more ... | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:11612648 | 8554872 | ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 3 | ClinVar | PMID:28492532 | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:28869797 | 8554872 | ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 3 | ClinVar | PMID:28492532 | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:28911846 | 8554872 | ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 3 | ClinVar | PMID:28492532 | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:11625950 | 8554872 | ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 3 | ClinVar | PMID:28492532 | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:11625753 | 8554872 | ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 3 | ClinVar | PMID:28492532 | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:28911302 | 8554872 | ClinVar Annotator: match by term: Tumoral calcinosis more ... | ClinVar | PMID:28492532 | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:28872220 | 8554872 | ClinVar Annotator: match by term: Tumoral calcinosis more ... | ClinVar | PMID:28492532 | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:28911415 | 8554872 | ClinVar Annotator: match by term: Tumoral calcinosis more ... | ClinVar | PMID:28492532 | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:28869795 | 8554872 | ClinVar Annotator: match by term: Tumoral calcinosis more ... | ClinVar | PMID:28492532 | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:11619303 | 8554872 | ClinVar Annotator: match by term: Tumoral calcinosis more ... | ClinVar | PMID:25741868, PMID:28492532 | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:28869299 | 8554872 | ClinVar Annotator: match by term: Tumoral calcinosis more ... | ClinVar | PMID:28492532 | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:8621541 | 8554872 | ClinVar Annotator: match by term: Tumoral calcinosis more ... | ClinVar | PMID:28492532 | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:11624301 | 8554872 | ClinVar Annotator: match by term: Tumoral calcinosis more ... | ClinVar | PMID:28492532 | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:28872412 | 8554872 | ClinVar Annotator: match by term: Tumoral calcinosis more ... | ClinVar | PMID:28492532 | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:11618114 | 8554872 | ClinVar Annotator: match by term: Tumoral calcinosis more ... | ClinVar | PMID:28492532 | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:11616524 | 8554872 | ClinVar Annotator: match by term: Tumoral calcinosis more ... | ClinVar | PMID:25741868, PMID:28492532 | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:11620809 | 8554872 | ClinVar Annotator: match by term: Tumoral calcinosis more ... | ClinVar | PMID:25741868, PMID:28492532 | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:28911731 | 8554872 | ClinVar Annotator: match by term: Tumoral calcinosis more ... | ClinVar | PMID:28492532 | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:28911729 | 8554872 | ClinVar Annotator: match by term: Tumoral calcinosis more ... | ClinVar | PMID:28492532 | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:28911780 | 8554872 | ClinVar Annotator: match by term: Tumoral calcinosis more ... | ClinVar | PMID:28492532 | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:11621621 | 8554872 | ClinVar Annotator: match by term: Tumoral calcinosis more ... | ClinVar | PMID:28492532 | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:11622560 | 8554872 | ClinVar Annotator: match by term: Tumoral calcinosis more ... | ClinVar | PMID:25741868, PMID:28492532 | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:28911847 | 8554872 | ClinVar Annotator: match by term: Tumoral calcinosis more ... | ClinVar | PMID:28492532 | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:11603487 | 8554872 | ClinVar Annotator: match by term: Tumoral calcinosis more ... | ClinVar | PMID:28492532 | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:11602837 | 8554872 | ClinVar Annotator: match by term: Tumoral calcinosis more ... | ClinVar | PMID:25741868, PMID:28492532 | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:28911417 | 8554872 | ClinVar Annotator: match by term: Tumoral calcinosis more ... | ClinVar | PMID:28492532 | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:11606928 | 8554872 | ClinVar Annotator: match by term: Tumoral calcinosis more ... | ClinVar | PMID:28492532 | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:28869556 | 8554872 | ClinVar Annotator: match by term: Tumoral calcinosis more ... | ClinVar | PMID:28492532 | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:11615970 | 8554872 | ClinVar Annotator: match by term: Tumoral calcinosis more ... | ClinVar | PMID:28492532 | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:28872413 | 8554872 | ClinVar Annotator: match by term: Tumoral calcinosis more ... | ClinVar | PMID:28492532 | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:28911413 | 8554872 | ClinVar Annotator: match by term: Tumoral calcinosis more ... | ClinVar | PMID:28492532 | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:11613048 | 8554872 | ClinVar Annotator: match by term: Tumoral calcinosis more ... | ClinVar | PMID:25741868, PMID:28492532 | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:11613996 | 8554872 | ClinVar Annotator: match by term: Tumoral calcinosis more ... | ClinVar | PMID:28492532 | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:28869548 | 8554872 | ClinVar Annotator: match by term: Tumoral calcinosis more ... | ClinVar | PMID:28492532 | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:11615786 | 8554872 | ClinVar Annotator: match by term: Tumoral calcinosis more ... | ClinVar | PMID:28492532 | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:28911730 | 8554872 | ClinVar Annotator: match by term: Tumoral calcinosis more ... | ClinVar | PMID:28492532 | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:11625160 | 8554872 | ClinVar Annotator: match by term: Tumoral calcinosis more ... | ClinVar | PMID:28492532 | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:11624867 | 8554872 | ClinVar Annotator: match by term: Tumoral calcinosis more ... | ClinVar | PMID:25741868, PMID:28492532 | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:11625978 | 8554872 | ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 3 | ClinVar | | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:28869308 | 8554872 | ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 3 | ClinVar | | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:28872226 | 8554872 | ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 3 | ClinVar | | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:11608229 | 8554872 | ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 3 | ClinVar | | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:28911355 | 8554872 | ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 3 | ClinVar | | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:28872215 | 8554872 | ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 3 | ClinVar | | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:28869303 | 8554872 | ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 3 | ClinVar | | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:28911922 | 8554872 | ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 3 | ClinVar | | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:28869552 | 8554872 | ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 3 | ClinVar | | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:11657657 | 8554872 | ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 3 | ClinVar | | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:11608696 | 8554872 | ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 3 | ClinVar | | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:28872590 | 8554872 | ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 3 | ClinVar | | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:11601416 | 8554872 | ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 3 | ClinVar | | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:11617178 | 8554872 | ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 3 | ClinVar | | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:28870002 | 8554872 | ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 3 | ClinVar | | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:11609410 | 8554872 | ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 3 | ClinVar | | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:11664189 | 8554872 | ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 3 | ClinVar | | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:11656287 | 8554872 | ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 3 | ClinVar | | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:11614252 | 8554872 | ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 3 | ClinVar | | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:11617349 | 8554872 | ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 3 | ClinVar | | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:11659879 | 8554872 | ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 3 | ClinVar | | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:11647107 | 8554872 | ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 3 | ClinVar | | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:28911921 | 8554872 | ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 3 | ClinVar | | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:28910242 | 8554872 | ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 3 | ClinVar | | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:11660160 | 8554872 | ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 3 | ClinVar | | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:28872894 | 8554872 | ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 3 | ClinVar | | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:11619210 | 8554872 | ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 3 | ClinVar | | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:11623232 | 8554872 | ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 3 | ClinVar | | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:11619964 | 8554872 | ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 3 | ClinVar | | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:28872218 | 8554872 | ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 3 | ClinVar | | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:28869304 | 8554872 | ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 3 | ClinVar | | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:28911779 | 8554872 | ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 3 | ClinVar | | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:28911356 | 8554872 | ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 3 | ClinVar | | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:11661077 | 8554872 | ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 3 | ClinVar | | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:11619430 | 8554872 | ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 3 | ClinVar | PMID:28492532 | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:28911782 | 8554872 | ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 3 | ClinVar | | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:28911781 | 8554872 | ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 3 | ClinVar | | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:28869557 | 8554872 | ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 3 | ClinVar | | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:15161207 | 8554872 | ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 3 | ClinVar | PMID:28492532 | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:11618128 | 8554872 | ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 3 | ClinVar | | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:11614006 | 8554872 | ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 3 | ClinVar | | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:11623560 | 8554872 | ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 3 | ClinVar | | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:28911357 | 8554872 | ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 3 | ClinVar | | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:28911920 | 8554872 | ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 3 | ClinVar | | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:28911919 | 8554872 | ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 3 | ClinVar | | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:11644944 | 8554872 | ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 3 | ClinVar | | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:11608282 | 8554872 | ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 3 | ClinVar | | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:11624455 | 8554872 | ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 3 | ClinVar | | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:28911358 | 8554872 | ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 3 | ClinVar | | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:11615409 | 8554872 | ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 3 | ClinVar | | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:11613736 | 8554872 | ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 3 | ClinVar | PMID:28492532 | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:11607701 | 8554872 | ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 3 | ClinVar | | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:28872595 | 8554872 | ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 3 | ClinVar | | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:28872222 | 8554872 | ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 3 | ClinVar | | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:11618046 | 8554872 | ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 3 | ClinVar | | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:28869793 | 8554872 | ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 3 | ClinVar | | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:11662052 | 8554872 | ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 3 | ClinVar | | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:11606694 | 8554872 | ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 3 | ClinVar | | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:11621925 | 8554872 | ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 3 | ClinVar | | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:11616804 | 8554872 | ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 3 | ClinVar | | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:11621391 | 8554872 | ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 3 | ClinVar | | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:11653295 | 8554872 | ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 3 | ClinVar | | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:11600023 | 8554872 | ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 3 | ClinVar | | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:11654330 | 8554872 | ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 3 | ClinVar | | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:28910240 | 8554872 | ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 3 | ClinVar | | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:28910241 | 8554872 | ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 3 | ClinVar | | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:28911416 | 8554872 | ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 3 | ClinVar | | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:28869799 | 8554872 | ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 3 | ClinVar | | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:28872891 | 8554872 | ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 3 | ClinVar | | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:28872592 | 8554872 | ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 3 | ClinVar | | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:14693054 | 8554872 | ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 3 | ClinVar | | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:28872602 | 8554872 | ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 3 | ClinVar | | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:28872415 | 8554872 | ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 3 | ClinVar | | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:28872406 | 8554872 | ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 3 | ClinVar | | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:28872418 | 8554872 | ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 3 | ClinVar | | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:28872599 | 8554872 | ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 3 | ClinVar | | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:150513262 | 8554872 | ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 3 | ClinVar | PMID:25741868 | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:11624772 | 8554872 | ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 3 | ClinVar | PMID:28492532 | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:28911414 | 8554872 | ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 3 | ClinVar | PMID:28492532 | Hyperphosphatemic Familial Tumoral Calcinosis 3 | | IAGP | RGD:28872409 | 8554872 | ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 3 | ClinVar | PMID:28492532 | |
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References
References - curated
| # | Reference Title | Reference Citation |
| 1. | Downregulation of the Klotho gene in the kidney under sustained circulatory stress in rats. | Aizawa H, etal., Biochem Biophys Res Commun. 1998 Aug 28;249(3):865-71. |
| 2. | Association between a functional variant of the KLOTHO gene and high-density lipoprotein cholesterol, blood pressure, stroke, and longevity. | Arking DE, etal., Circ Res. 2005 Mar 4;96(4):412-8. Epub 2005 Jan 27. |
| 3. | Vitamin D-deficient diet rescues hearing loss in Klotho mice. | Carpinelli MR, etal., Hear Res. 2011 May;275(1-2):105-9. doi: 10.1016/j.heares.2010.12.009. Epub 2010 Dec 16. |
| 4. | Fosinopril and valsartan intervention in gene expression of Klotho, MMP-9, TIMP-1, and PAI-1 in the kidney of spontaneously hypertensive rats. | Cheng X, etal., Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2010 Oct;35(10):1048-56. doi: 10.3969/j.issn.1672-7347.2010.10.004. |
| 5. | Retinitis Pigmentosa: over-expression of anti-ageing protein Klotho in degenerating photoreceptors. | Farinelli P, etal., J Neurochem. 2013 Dec;127(6):868-79. doi: 10.1111/jnc.12353. Epub 2013 Jul 22. |
| 6. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
| 7. | Increased parathyroid expression of klotho in uremic rats. | Hofman-Bang J, etal., Kidney Int. 2010 Dec;78(11):1119-27. doi: 10.1038/ki.2010.215. Epub 2010 Jul 14. |
| 8. | Klotho deficiency causes vascular calcification in chronic kidney disease. | Hu MC, etal., J Am Soc Nephrol. 2011 Jan;22(1):124-36. doi: 10.1681/ASN.2009121311. Epub 2010 Nov 29. |
| 9. | Rosiglitazone is effective to improve renal damage in type-1-like diabetic rats. | Huang KC, etal., Horm Metab Res. 2014 Apr;46(4):240-4. doi: 10.1055/s-0033-1357161. Epub 2013 Oct 17. |
| 10. | Klotho gene polymorphism may be a genetic risk factor for atherosclerotic coronary artery disease but not for vasospastic angina in Japanese. | Imamura A, etal., Clin Chim Acta. 2006 Sep;371(1-2):66-70. Epub 2006 Mar 6. |
| 11. | Sepsis-induced hypercytokinemia and lymphocyte apoptosis in aging-accelerated Klotho knockout mice. | Inoue S, etal., Shock. 2013 Mar;39(3):311-6. doi: 10.1097/SHK.0b013e3182845445. |
| 12. | Klotho is a genetic risk factor for ischemic stroke caused by cardioembolism in Korean females. | Kim Y, etal., Neurosci Lett. 2006 Oct 30;407(3):189-94. Epub 2006 Sep 14. |
| 13. | Severely reduced production of klotho in human chronic renal failure kidney. | Koh N, etal., Biochem Biophys Res Commun. 2001 Feb 2;280(4):1015-20. |
| 14. | Klotho upregulation contributes to the neuroprotection of ligustilide in an Alzheimer's disease mouse model. | Kuang X, etal., Neurobiol Aging. 2014 Jan;35(1):169-78. doi: 10.1016/j.neurobiolaging.2013.07.019. Epub 2013 Aug 21. |
| 15. | Mutation of the mouse klotho gene leads to a syndrome resembling ageing. | Kuro-o M, etal., Nature. 1997 Nov 6;390(6655):45-51. |
| 16. | Regulation of fibroblast growth factor-23 signaling by klotho. | Kurosu H, etal., J Biol Chem. 2006 Mar 10;281(10):6120-3. Epub 2006 Jan 25. |
| 17. | [Klotho gene attenuates the progression of hypertension and heart damage in spontaneous hypertensive rats]. | Li BS, etal., Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2012 Dec;29(6):662-8. doi: 10.3760/cma.j.issn.1003-9406.2012.06.008. |
| 18. | In vivo klotho gene transfer ameliorates angiotensin II-induced renal damage. | Mitani H, etal., Hypertension 2002 Apr;39(4):838-43. |
| 19. | Endothelial dysfunction in the klotho mouse and downregulation of klotho gene expression in various animal models of vascular and metabolic diseases. | Nagai R, etal., Cell Mol Life Sci. 2000 May;57(5):738-46. |
| 20. | Association of klotho gene polymorphism with bone density and spondylosis of the lumbar spine in postmenopausal women. | Ogata N, etal., Bone. 2002 Jul;31(1):37-42. |
| 21. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 22. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
| 23. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 24. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 25. | RGD HPO Phenotype Annotation Pipeline | RGD automated import pipeline for human HPO-to-gene-to-disease annotations |
| 26. | The differential effects of age on the association of KLOTHO gene polymorphisms with coronary artery disease. | Rhee EJ, etal., Metabolism. 2006 Oct;55(10):1344-51. |
| 27. | In vivo klotho gene delivery protects against endothelial dysfunction in multiple risk factor syndrome. | Saito Y, etal., Biochem Biophys Res Commun. 2000 Sep 24;276(2):767-72. |
| 28. | Klotho reduces apoptosis in experimental ischaemic acute renal failure. | Sugiura H, etal., Nephrol Dial Transplant. 2005 Dec;20(12):2636-45. Epub 2005 Oct 4. |
| 29. | Sinoatrial node dysfunction and early unexpected death of mice with a defect of klotho gene expression. | Takeshita K, etal., Circulation. 2004 Apr 13;109(14):1776-82. Epub 2004 Mar 22. |
| 30. | Double heterozygosity for a novel missense mutation of Ile304 to Asn in addition to the missense mutation His280 to Pro in the integrin beta3 gene as a cause of the absence of platelet alphaIIbbeta3 in Glanzmann's thrombasthenia. | Tanaka S, etal., J Thromb Haemost. 2005 Jan;3(1):68-73. |
| 31. | Tumor necrosis factor and interferon-gamma down-regulate Klotho in mice with colitis. | Thurston RD, etal., Gastroenterology. 2010 Apr;138(4):1384-94, 1394.e1-2. doi: 10.1053/j.gastro.2009.12.002. Epub 2009 Dec 11. |
| 32. | Association of KLOTHO gene polymorphisms with knee osteoarthritis in Greek population. | Tsezou A, etal., J Orthop Res. 2008 Nov;26(11):1466-70. doi: 10.1002/jor.20634. |
| 33. | Renal expression of FGF23 in progressive renal disease of diabetes and the effect of ACE inhibitor. | Zanchi C, etal., PLoS One. 2013 Aug 14;8(8):e70775. doi: 10.1371/journal.pone.0070775. eCollection 2013. |
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Genomics
Comparative Map Data
| KL (Homo sapiens - human) |
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| Kl (Mus musculus - house mouse) |
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| Kl (Rattus norvegicus - Norway rat) |
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| Kl (Chinchilla lanigera - long-tailed chinchilla) |
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| KL (Pan paniscus - bonobo/pygmy chimpanzee) |
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| KL (Canis lupus familiaris - dog) |
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| Kl (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| KL (Sus scrofa - pig) |
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| KL (Chlorocebus sabaeus - green monkey) |
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| Kl (Heterocephalus glaber - naked mole-rat) |
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Variants
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Variants in KL
212 total Variants 
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