Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Charcot-Marie-Tooth disease type 2 | | IAGP | RGD:151790784 | 8554872 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 | ClinVar | PMID:28492532, PMID:29845577 | Elevated Adenosine Triphosphate of Erythrocytes | | IAGP | RGD:11577504 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase hyperactivity | ClinVar | PMID:11960989 more ... | Elevated Adenosine Triphosphate of Erythrocytes | | IAGP | RGD:13486654 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase hyperactivity | ClinVar | PMID:25741868, PMID:28492532 | Elevated Adenosine Triphosphate of Erythrocytes | | IAGP | RGD:12907458 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase hyperactivity | ClinVar | PMID:16704447, PMID:25741868 | Elevated Adenosine Triphosphate of Erythrocytes | | IAGP | RGD:11660903 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase hyperactivity | ClinVar | PMID:25741868 more ... | Elevated Adenosine Triphosphate of Erythrocytes | | IAGP | RGD:8556275 | 8554872 | ClinVar Annotator: match by term: Adenosine triphosphate more ... | ClinVar | PMID:4160306, PMID:8664896 | Elevated Adenosine Triphosphate of Erythrocytes | | IAGP | RGD:126747397 | 8554872 | ClinVar Annotator: match by term: Adenosine triphosphate more ... | ClinVar | PMID:25741868 | Elevated Adenosine Triphosphate of Erythrocytes | | IAGP | RGD:243052186 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase hyperactivity | ClinVar | PMID:25741868 | Elevated Adenosine Triphosphate of Erythrocytes | | IAGP | RGD:8556276 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase hyperactivity | ClinVar | PMID:10354117 more ... | Elevated Adenosine Triphosphate of Erythrocytes | | IAGP | RGD:150410323 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase hyperactivity | ClinVar | PMID:16704447 more ... | Elevated Adenosine Triphosphate of Erythrocytes | | IAGP | RGD:11350596 | 8554872 | ClinVar Annotator: match by term: Adenosine triphosphate more ... | ClinVar | PMID:25741868, PMID:28492532 | gastrointestinal stromal tumor | | IAGP | RGD:126734315 | 8554872 | ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar | PMID:28492532 | genetic disease | | IAGP | RGD:329386717 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | RGD:156198289 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | RGD:28889616 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 | genetic disease | | IAGP | RGD:156100491 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | RGD:156238525 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | RGD:156056275 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | RGD:156333257 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | RGD:156150834 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | RGD:329397993 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | hemolytic anemia | | IAGP | RGD:21404853 | 8554872 | ClinVar Annotator: match by term: Hemolytic anemia | ClinVar | PMID:28492532 more ... | immunodeficiency 42 | | IAGP | RGD:151819225 | 8554872 | ClinVar Annotator: match by term: Immunodeficiency 42 | ClinVar | PMID:28492532 | MHC class II deficiency | | IAGP | RGD:151819225 | 8554872 | ClinVar Annotator: match by term: Bare lymphocyte syndrome 2 | ClinVar | PMID:28492532 | parathyroid carcinoma | | IAGP | RGD:126734315 | 8554872 | ClinVar Annotator: match by term: Parathyroid carcinoma | ClinVar | PMID:28492532 | pyruvate kinase deficiency of red cells | | IAGP | RGD:127288944 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | PMID:11960989 more ... | pyruvate kinase deficiency of red cells | | IAGP | RGD:8556270 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | PMID:19085939 more ... | pyruvate kinase deficiency of red cells | | IAGP | RGD:28889613 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | PMID:28492532 | pyruvate kinase deficiency of red cells | | IAGP | RGD:8556274 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | PMID:11698298 more ... | pyruvate kinase deficiency of red cells | | IAGP | RGD:11577504 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | PMID:11960989 more ... | pyruvate kinase deficiency of red cells | | IAGP | RGD:21070482 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | PMID:25741868, PMID:28492532 | pyruvate kinase deficiency of red cells | | IAGP | RGD:28889604 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | PMID:28492532 | pyruvate kinase deficiency of red cells | | IAGP | RGD:11660903 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | PMID:25741868 more ... | pyruvate kinase deficiency of red cells | | IAGP | RGD:155268145 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | PMID:25741868 | pyruvate kinase deficiency of red cells | | IAGP | RGD:155267978 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | PMID:25741868 | pyruvate kinase deficiency of red cells | | IAGP | RGD:155268019 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | PMID:25741868 | pyruvate kinase deficiency of red cells | | IAGP | RGD:155267945 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | PMID:25741868, PMID:7706479 | pyruvate kinase deficiency of red cells | | IAGP | RGD:28889616 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | PMID:25741868 | pyruvate kinase deficiency of red cells | | IAGP | RGD:11581287 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | PMID:25741868 | pyruvate kinase deficiency of red cells | | IAGP | RGD:8556273 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | PMID:11960989 more ... | pyruvate kinase deficiency of red cells | | IAGP | RGD:8556279 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | PMID:15491302 more ... | pyruvate kinase deficiency of red cells | | IAGP | RGD:152999472 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | PMID:25741868, PMID:32043619 | pyruvate kinase deficiency of red cells | | IAGP | RGD:152999559 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | PMID:25741868 | pyruvate kinase deficiency of red cells | | IAGP | RGD:151879137 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | PMID:25741868 more ... | pyruvate kinase deficiency of red cells | | IAGP | RGD:41404995 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | PMID:25741868 | pyruvate kinase deficiency of red cells | | IAGP | RGD:11581556 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | PMID:25741868 | pyruvate kinase deficiency of red cells | | IAGP | RGD:11579660 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | PMID:10828047 more ... | pyruvate kinase deficiency of red cells | | IAGP | RGD:150520376 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | PMID:25741868, PMID:34008892 | pyruvate kinase deficiency of red cells | | IAGP | RGD:8556280 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | PMID:16704447 more ... | pyruvate kinase deficiency of red cells | | IAGP | RGD:28878498 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | PMID:25741868, PMID:28492532 | pyruvate kinase deficiency of red cells | | IAGP | RGD:14688084 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | PMID:15953013, PMID:25741868 | pyruvate kinase deficiency of red cells | | IAGP | RGD:11657550 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | PMID:25741868 | pyruvate kinase deficiency of red cells | | IAGP | RGD:28894397 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | PMID:15953013 more ... | pyruvate kinase deficiency of red cells | | IAGP | RGD:243062504 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | PMID:25741868 | pyruvate kinase deficiency of red cells | | IAGP | RGD:11578541 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | PMID:25741868 | pyruvate kinase deficiency of red cells | | IAGP | RGD:40815508 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | PMID:25741868 | pyruvate kinase deficiency of red cells | | IAGP | RGD:150410323 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | PMID:16704447 more ... | pyruvate kinase deficiency of red cells | | IAGP | RGD:152999546 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | PMID:25741868, PMID:9657767 | pyruvate kinase deficiency of red cells | | IAGP | RGD:8556276 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | PMID:10354117 more ... | pyruvate kinase deficiency of red cells | | IAGP | RGD:152999308 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | PMID:18759866, PMID:25741868 | pyruvate kinase deficiency of red cells | | IAGP | RGD:152999244 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | PMID:11328279, PMID:25741868 | pyruvate kinase deficiency of red cells | | IAGP | RGD:28894627 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | PMID:1670447 more ... | pyruvate kinase deficiency of red cells | | IAGP | RGD:11542323 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | PMID:25741868, PMID:28492532 | pyruvate kinase deficiency of red cells | | IAGP | RGD:28878808 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | PMID:21833022 more ... | pyruvate kinase deficiency of red cells | | IAGP | RGD:28894630 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | PMID:26658699 | pyruvate kinase deficiency of red cells | | IAGP | RGD:11350596 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | PMID:25741868, PMID:28492532 | pyruvate kinase deficiency of red cells | | IAGP | RGD:28889310 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | | pyruvate kinase deficiency of red cells | | IAGP | RGD:28878210 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | | pyruvate kinase deficiency of red cells | | IAGP | RGD:28878515 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | | pyruvate kinase deficiency of red cells | | IAGP | RGD:28889622 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | PMID:19758413, PMID:26832193 | pyruvate kinase deficiency of red cells | | IAGP | RGD:28884141 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | | pyruvate kinase deficiency of red cells | | IAGP | RGD:28889609 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | | pyruvate kinase deficiency of red cells | | IAGP | RGD:28889306 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | | pyruvate kinase deficiency of red cells | | IAGP | RGD:25316870 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | PMID:25741868 | pyruvate kinase deficiency of red cells | | IAGP | RGD:28878813 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | | pyruvate kinase deficiency of red cells | | IAGP | RGD:28894624 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | | pyruvate kinase deficiency of red cells | | IAGP | RGD:28889313 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | | pyruvate kinase deficiency of red cells | | IAGP | RGD:28878509 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | | pyruvate kinase deficiency of red cells | | IAGP | RGD:28884136 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | | pyruvate kinase deficiency of red cells | | IAGP | RGD:28883833 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | | pyruvate kinase deficiency of red cells | | IAGP | RGD:14688079 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | PMID:9057665 | pyruvate kinase deficiency of red cells | | IAGP | RGD:28878505 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | | pyruvate kinase deficiency of red cells | | IAGP | RGD:28884127 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | | pyruvate kinase deficiency of red cells | | IAGP | RGD:28884133 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | | pyruvate kinase deficiency of red cells | | IAGP | RGD:14688082 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | PMID:9657767 | pyruvate kinase deficiency of red cells | | IAGP | RGD:28878513 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | | pyruvate kinase deficiency of red cells | | IAGP | RGD:28883838 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | | pyruvate kinase deficiency of red cells | | IAGP | RGD:14399310 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | | pyruvate kinase deficiency of red cells | | IAGP | RGD:28894394 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | | pyruvate kinase deficiency of red cells | | IAGP | RGD:11581154 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | PMID:28492532 | pyruvate kinase deficiency of red cells | | IAGP | RGD:11581633 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | PMID:28492532 | pyruvate kinase deficiency of red cells | | IAGP | RGD:13827535 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | PMID:25741868 | pyruvate kinase deficiency of red cells | | IAGP | RGD:127286898 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | PMID:25741868, PMID:34008892 | pyruvate kinase deficiency of red cells | | IAGP | RGD:13527891 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | PMID:25741868 | pyruvate kinase deficiency of red cells | | IAGP | RGD:127288948 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | PMID:25741868, PMID:26832193 | pyruvate kinase deficiency of red cells | | IAGP | RGD:8556272 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | PMID:1536957 | pyruvate kinase deficiency of red cells | | IAGP | RGD:11590545 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | | pyruvate kinase deficiency of red cells | | IAGP | RGD:11577867 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | | pyruvate kinase deficiency of red cells | | IAGP | RGD:11646476 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | | pyruvate kinase deficiency of red cells | | IAGP | RGD:11587124 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | | pyruvate kinase deficiency of red cells | | IAGP | RGD:11580752 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | | pyruvate kinase deficiency of red cells | | IAGP | RGD:11596816 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | | pyruvate kinase deficiency of red cells | | IAGP | RGD:11580319 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | | pyruvate kinase deficiency of red cells | | IAGP | RGD:11585271 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | | pyruvate kinase deficiency of red cells | | IAGP | RGD:11589160 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | | pyruvate kinase deficiency of red cells | | IAGP | RGD:11655470 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | | pyruvate kinase deficiency of red cells | | IAGP | RGD:11580906 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | | pyruvate kinase deficiency of red cells | | IAGP | RGD:8556277 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | PMID:9886305 | pyruvate kinase deficiency of red cells | | IAGP | RGD:11596357 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | | pyruvate kinase deficiency of red cells | | IAGP | RGD:11657029 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | | pyruvate kinase deficiency of red cells | | IAGP | RGD:8556269 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | PMID:1937486 | pyruvate kinase deficiency of red cells | | IAGP | RGD:11578126 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | | pyruvate kinase deficiency of red cells | | IAGP | RGD:11587587 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | | pyruvate kinase deficiency of red cells | | IAGP | RGD:11580437 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | | pyruvate kinase deficiency of red cells | | IAGP | RGD:11579925 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | | pyruvate kinase deficiency of red cells | | IAGP | RGD:8556278 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | PMID:12393511 | pyruvate kinase deficiency of red cells | | IAGP | RGD:11597273 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | | pyruvate kinase deficiency of red cells | | IAGP | RGD:11581431 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | | pyruvate kinase deficiency of red cells | | IAGP | RGD:11583272 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | | pyruvate kinase deficiency of red cells | | IAGP | RGD:11542256 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | PMID:25741868 | pyruvate kinase deficiency of red cells | | IAGP | RGD:11594511 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | | pyruvate kinase deficiency of red cells | | IAGP | RGD:11595000 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | | pyruvate kinase deficiency of red cells | | IAGP | RGD:11598472 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | | pyruvate kinase deficiency of red cells | | IAGP | RGD:12907458 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | PMID:16704447, PMID:25741868 | pyruvate kinase deficiency of red cells | | IAGP | RGD:11656298 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | | pyruvate kinase deficiency of red cells | | IAGP | RGD:11649452 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | | pyruvate kinase deficiency of red cells | | IAGP | RGD:8556271 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | PMID:1896471 | pyruvate kinase deficiency of red cells | | IAGP | RGD:150339806 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | PMID:25741868 | pyruvate kinase deficiency of red cells | | IAGP | RGD:15155491 | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | PMID:21833022 more ... | severe congenital neutropenia 3 | | IAGP | RGD:151819225 | 8554872 | ClinVar Annotator: match by term: Kostmann syndrome | ClinVar | PMID:28492532 | severe congenital neutropenia 5 | | IAGP | RGD:151819225 | 8554872 | ClinVar Annotator: match by term: Severe congenital neutropenia 5, autosomal recessive | ClinVar | PMID:28492532 | |
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References
References - curated
| # | Reference Title | Reference Citation |
| 1. | Lack of association between PKLR rs3020781 and NOS1AP rs7538490 and type 2 diabetes, overweight, obesity and related metabolic phenotypes in a Danish large-scale study: case-control studies and analyses of quantitative traits. | Andreasen CH, etal., BMC Med Genet. 2008 Dec 26;9:118. doi: 10.1186/1471-2350-9-118. |
| 2. | Differential hepatic gene expression in a polygenic mouse model with insulin resistance and hyperglycemia: evidence for a combined transcriptional dysregulation of gluconeogenesis and fatty acid synthesis. | Becker W, etal., J Mol Endocrinol. 2004 Feb;32(1):195-208. |
| 3. | Red blood cell PK deficiency: An update of PK-LR gene mutation database. | Canu G, etal., Blood Cells Mol Dis. 2016 Mar;57:100-9. doi: 10.1016/j.bcmd.2015.12.009. Epub 2016 Jan 12. |
| 4. | Pyruvate kinase activation and lipoperoxidation after selective hepatic ischemia in Wistar rats. | de Faatima Santana Ferreira Boin I, etal., Acta Cir Bras. 2006;21 Suppl 1:19-23. |
| 5. | Relationships between concentration of hepatic intermediary metabolites and induction of the key glycolytic enzymes in vivo. | Gunn JM and Taylor CB, Biochem J. 1973 Nov;136(3):455-65. |
| 6. | Disordered expression of hepatic glycolytic and gluconeogenic enzymes in Otsuka Long-Evans Tokushima fatty rats with spontanteous long-term hyperglycemia. | Hotta K, etal., Biochim Biophys Acta. 1996 Feb 9;1289(1):145-9. |
| 7. | Identical point mutations of the R-type pyruvate kinase (PK) cDNA found in unrelated PK variants associated with hereditary hemolytic anemia. | Kanno H, etal., Blood. 1992 Mar 1;79(5):1347-50. |
| 8. | Molecular abnormality of erythrocyte pyruvate kinase deficiency in the Amish. | Kanno H, etal., Blood. 1994 Apr 15;83(8):2311-6. |
| 9. | Hereditary hemolytic anemia caused by diverse point mutations of pyruvate kinase gene found in Japan and Hong Kong. | Kanno H, etal., Blood. 1994 Nov 15;84(10):3505-9. |
| 10. | Primary structure of murine red blood cell-type pyruvate kinase (PK) and molecular characterization of PK deficiency identified in the CBA strain. | Kanno H, etal., Blood. 1995 Oct 15;86(8):3205-10. |
| 11. | KEGG: Kyoto Encyclopedia of Genes and Genomes | KEGG |
| 12. | Malaria: looking for selection signatures in the human PKLR gene region. | Machado P, etal., Br J Haematol. 2010 Jun;149(5):775-84. doi: 10.1111/j.1365-2141.2010.08165.x. Epub 2010 Apr 4. |
| 13. | A new PKLR gene mutation in the R-type promoter region affects the gene transcription causing pyruvate kinase deficiency. | Manco L, etal., Br J Haematol. 2000 Sep;110(4):993-7. |
| 14. | Rescue of pyruvate kinase deficiency in mice by gene therapy using the human isoenzyme. | Meza NW, etal., Mol Ther. 2009 Dec;17(12):2000-9. doi: 10.1038/mt.2009.200. Epub 2009 Sep 15. |
| 15. | Pyruvate kinase deficiency in mice protects against malaria. | Min-Oo G, etal., Nat Genet. 2003 Dec;35(4):357-62. Epub 2003 Nov 2. |
| 16. | In vivo effect of Trigonella foenum graecum on the expression of pyruvate kinase, phosphoenolpyruvate carboxykinase, and distribution of glucose transporter (GLUT4) in alloxan-diabetic rats. | Mohammad S, etal., Can J Physiol Pharmacol. 2006 Jun;84(6):647-54. |
| 17. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 18. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
| 19. | PID Annotation Import Pipeline | Pipeline to import Pathway Interaction Database annotations from NCI into RGD |
| 20. | SMPDB Annotation Import Pipeline | Pipeline to import SMPDB annotations from SMPDB into RGD |
| 21. | Pyruvate kinase deficiency in France: a 3-year study reveals 27 new mutations. | Pissard S, etal., Br J Haematol. 2006 Jun;133(6):683-9. |
| 22. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 23. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 24. | RGD HPO Phenotype Annotation Pipeline | RGD automated import pipeline for human HPO-to-gene-to-disease annotations |
| 25. | Overexpression of c-myc in the liver prevents obesity and insulin resistance. | Riu E, etal., FASEB J. 2003 Sep;17(12):1715-7. Epub 2003 Jul 18. |
| 26. | Linkage disequilibrium of common Gaucher disease mutations with a polymorphic site in the pyruvate kinase (PKLR) gene. | Rockah R, etal., Am J Med Genet. 1998 Jul 7;78(3):233-6. |
| 27. | Liver pyruvate kinase polymorphisms are associated with type 2 diabetes in northern European Caucasians. | Wang H, etal., Diabetes. 2002 Sep;51(9):2861-5. |
| 28. | Induction and suppression of the key enzymes of glycolysis and gluconeogenesis in isolated perfused rat liver in response to glucose, fructose and lactate. | Wimhurst JM and Manchester KL, Biochem J. 1973 May;134(1):143-56. |
| 29. | Effect of thermal injury on relative anaplerosis and gluconeogenesis in the rat during infusion of [U-13C] propionate. | Zhaofan X, etal., Burns. 2002 Nov;28(7):625-30. |
Additional References at PubMed
| PMID:1445295 | PMID:1602151 | PMID:1896471 | PMID:2018831 | PMID:3126495 | PMID:3378452 | PMID:3566732 | PMID:7706479 | PMID:8125298 | PMID:8180378 | PMID:8476433 | PMID:8481523 |
| PMID:8483951 | PMID:8524282 | PMID:8664896 | PMID:8807089 | PMID:9057665 | PMID:9075576 | PMID:9090535 | PMID:9482576 | PMID:9522120 | PMID:9827908 | PMID:9886305 | PMID:10087985 |
| PMID:10772876 | PMID:11328279 | PMID:11459427 | PMID:11668614 | PMID:11698298 | PMID:11916152 | PMID:11960989 | PMID:12006652 | PMID:12107439 | PMID:12393511 | PMID:12477932 | PMID:15489334 |
| PMID:15491302 | PMID:15727904 | PMID:15996096 | PMID:16289162 | PMID:16540430 | PMID:17081983 | PMID:17192395 | PMID:17360088 | PMID:17574881 | PMID:17977029 | PMID:18269685 | PMID:18420493 |
| PMID:18460648 | PMID:18624398 | PMID:18683378 | PMID:18698090 | PMID:18726918 | PMID:18759866 | PMID:18840520 | PMID:18976975 | PMID:18996102 | PMID:19056867 | PMID:19085939 | PMID:19320443 |
| PMID:19372549 | PMID:19615732 | PMID:19655166 | PMID:19743919 | PMID:20602615 | PMID:20682687 | PMID:20849852 | PMID:20978194 | PMID:21700219 | PMID:21784452 | PMID:21833022 | PMID:21873635 |
| PMID:22001757 | PMID:22222284 | PMID:23082140 | PMID:23263486 | PMID:23270483 | PMID:23773021 | PMID:24330591 | PMID:24375447 | PMID:24533562 | PMID:24550385 | PMID:24969675 | PMID:25388786 |
| PMID:25629396 | PMID:26186194 | PMID:26344197 | PMID:26658699 | PMID:26728349 | PMID:26784545 | PMID:26829734 | PMID:27342114 | PMID:27871768 | PMID:28133914 | PMID:28319085 | PMID:28407397 |
| PMID:28514442 | PMID:28605553 | PMID:28700943 | PMID:29349879 | PMID:30028822 | PMID:30463901 | PMID:31501420 | PMID:31586073 | PMID:31623628 | PMID:31747117 | PMID:32072180 | PMID:32235678 |
| PMID:32296183 | PMID:32449829 | PMID:32463523 | PMID:32707033 | PMID:32942044 | PMID:32974842 | PMID:33631127 | PMID:33961781 | PMID:34076313 | PMID:34299191 | PMID:34449765 | PMID:35168679 |
| PMID:35271311 | PMID:35271708 | PMID:35306527 | PMID:35844135 | PMID:35944360 | PMID:36038921 | PMID:36261009 | PMID:36586017 | PMID:36892591 |
Genomics
Comparative Map Data
| PKLR (Homo sapiens - human) |
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| Pklr (Mus musculus - house mouse) |
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| Pklr (Rattus norvegicus - Norway rat) |
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| Pklr (Chinchilla lanigera - long-tailed chinchilla) |
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| PKLR (Pan paniscus - bonobo/pygmy chimpanzee) |
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| PKLR (Canis lupus familiaris - dog) |
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| Pklr (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| PKLR (Sus scrofa - pig) |
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| PKLR (Chlorocebus sabaeus - green monkey) |
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| Pklr (Heterocephalus glaber - naked mole-rat) |
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Variants
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Variants in PKLR
246 total Variants 
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