Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | genetic disease | | IAGP | RGD:156269457 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | RGD:155965373 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | RGD:11580904 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | RGD:156179692 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 | genetic disease | | IAGP | RGD:155968279 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | RGD:11582207 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 | genetic disease | | IAGP | RGD:156244428 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | RGD:11581728 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | RGD:156181147 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | RGD:156326340 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | RGD:156152821 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | RGD:13815696 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 | genetic disease | | IAGP | RGD:153302470 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 | Hajdu-Cheney syndrome | | IAGP | RGD:151775071 | 8554872 | ClinVar Annotator: match by term: Hajdu-Cheney syndrome | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:151710412 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:156298896 | 8554872 | ClinVar Annotator: match by term: HMG-CoA synthase-2 deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:156406733 | 8554872 | ClinVar Annotator: match by term: HMG-CoA synthase-2 deficiency | ClinVar | PMID:25511235 more ... | HMG-CoA synthase 2 deficiency | | IAGP | RGD:156012602 | 8554872 | ClinVar Annotator: match by term: HMG-CoA synthase-2 deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:156026432 | 8554872 | ClinVar Annotator: match by term: HMG-CoA synthase-2 deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:156412149 | 8554872 | ClinVar Annotator: match by term: HMG-CoA synthase-2 deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:155941245 | 8554872 | ClinVar Annotator: match by term: HMG-CoA synthase-2 deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:126742888 | 8554872 | ClinVar Annotator: match by term: HMG-CoA synthase-2 deficiency | ClinVar | PMID:20346956 more ... | HMG-CoA synthase 2 deficiency | | IAGP | RGD:156199038 | 8554872 | ClinVar Annotator: match by term: HMG-CoA synthase-2 deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:28883817 | 8554872 | ClinVar Annotator: match by term: HMG-CoA synthase-2 deficiency | ClinVar | PMID:28492532, PMID:32952630 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:8560982 | 8554872 | ClinVar Annotator: match by term: HMG-CoA synthase-2 deficiency | ClinVar | PMID:11479731 more ... | HMG-CoA synthase 2 deficiency | | IAGP | RGD:26886207 | 8554872 | ClinVar Annotator: match by term: HMG-CoA synthase-2 deficiency | ClinVar | PMID:16199547 more ... | HMG-CoA synthase 2 deficiency | | IAGP | RGD:155927847 | 8554872 | ClinVar Annotator: match by term: HMG-CoA synthase-2 deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:156365587 | 8554872 | ClinVar Annotator: match by term: HMG-CoA synthase-2 deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:156375506 | 8554872 | ClinVar Annotator: match by term: HMG-CoA synthase-2 deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:156131564 | 8554872 | ClinVar Annotator: match by term: HMG-CoA synthase-2 deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:38483723 | 8554872 | ClinVar Annotator: match by term: HMG-CoA synthase-2 deficiency | ClinVar | PMID:17576681 more ... | HMG-CoA synthase 2 deficiency | | IAGP | RGD:156330444 | 8554872 | ClinVar Annotator: match by term: HMG-CoA synthase-2 deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:156221490 | 8554872 | ClinVar Annotator: match by term: HMG-CoA synthase-2 deficiency | ClinVar | PMID:28492532, PMID:29597274 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:156311527 | 8554872 | ClinVar Annotator: match by term: HMG-CoA synthase-2 deficiency | ClinVar | PMID:25511235 more ... | HMG-CoA synthase 2 deficiency | | IAGP | RGD:12836330 | 8554872 | ClinVar Annotator: match by term: HMG-CoA synthase-2 deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:155964623 | 8554872 | ClinVar Annotator: match by term: HMG-CoA synthase-2 deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:156233983 | 8554872 | ClinVar Annotator: match by term: HMG-CoA synthase-2 deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:156108668 | 8554872 | ClinVar Annotator: match by term: HMG-CoA synthase-2 deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:156213060 | 8554872 | ClinVar Annotator: match by term: HMG-CoA synthase-2 deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:13485825 | 8554872 | ClinVar Annotator: match by term: HMG-CoA synthase-2 deficiency | ClinVar | PMID:28492532 more ... | HMG-CoA synthase 2 deficiency | | IAGP | RGD:14727032 | 8554872 | ClinVar Annotator: match by term: HMG-CoA synthase-2 deficiency | ClinVar | PMID:17576681 more ... | HMG-CoA synthase 2 deficiency | | IAGP | RGD:156110715 | 8554872 | ClinVar Annotator: match by term: HMG-CoA synthase-2 deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:155974100 | 8554872 | ClinVar Annotator: match by term: HMG-CoA synthase-2 deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:14723513 | 8554872 | ClinVar Annotator: match by term: HMG-CoA synthase-2 deficiency | ClinVar | PMID:16199547 more ... | HMG-CoA synthase 2 deficiency | | IAGP | RGD:156357672 | 8554872 | ClinVar Annotator: match by term: HMG-CoA synthase-2 deficiency | ClinVar | PMID:20346956 more ... | HMG-CoA synthase 2 deficiency | | IAGP | RGD:156238506 | 8554872 | ClinVar Annotator: match by term: HMG-CoA synthase-2 deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:13479523 | 8554872 | ClinVar Annotator: match by term: HMG-CoA synthase-2 deficiency | ClinVar | PMID:23751782 more ... | HMG-CoA synthase 2 deficiency | | IAGP | RGD:156138786 | 8554872 | ClinVar Annotator: match by term: HMG-CoA synthase-2 deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:156311730 | 8554872 | ClinVar Annotator: match by term: HMG-CoA synthase-2 deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:26915647 | 8554872 | ClinVar Annotator: match by term: HMG-CoA synthase-2 deficiency | ClinVar | PMID:25511235, PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:126742895 | 8554872 | ClinVar Annotator: match by term: HMG-CoA synthase-2 deficiency | ClinVar | PMID:20346956 more ... | HMG-CoA synthase 2 deficiency | | IAGP | RGD:155948855 | 8554872 | ClinVar Annotator: match by term: HMG-CoA synthase-2 deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:8560979 | 8554872 | ClinVar Annotator: match by term: HMG-CoA synthase-2 deficiency | ClinVar | PMID:11228257 more ... | HMG-CoA synthase 2 deficiency | | IAGP | RGD:153302470 | 8554872 | ClinVar Annotator: match by term: HMG-CoA synthase-2 deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:28883810 | 8554872 | ClinVar Annotator: match by term: HMG-CoA synthase-2 deficiency | ClinVar | PMID:25741868, PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:155993828 | 8554872 | ClinVar Annotator: match by term: HMG-CoA synthase-2 deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:156299015 | 8554872 | ClinVar Annotator: match by term: HMG-CoA synthase-2 deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:156438952 | 8554872 | ClinVar Annotator: match by term: HMG-CoA synthase-2 deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:11580639 | 8554872 | ClinVar Annotator: match by term: HMG-CoA synthase-2 deficiency | ClinVar | PMID:25741868, PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:151838189 | 8554872 | ClinVar Annotator: match by term: HMG-CoA synthase-2 deficiency | ClinVar | PMID:20346956 more ... | HMG-CoA synthase 2 deficiency | | IAGP | RGD:155698976 | 8554872 | ClinVar Annotator: match by term: HMG-CoA synthase-2 deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:156045784 | 8554872 | ClinVar Annotator: match by term: HMG-CoA synthase-2 deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:155798404 | 8554872 | ClinVar Annotator: match by term: HMG-CoA synthase-2 deficiency | ClinVar | PMID:25741868 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:151882773 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:151715210 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:25511235 more ... | HMG-CoA synthase 2 deficiency | | IAGP | RGD:151817359 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:28878177 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:151234336 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:20346956 more ... | HMG-CoA synthase 2 deficiency | | IAGP | RGD:151800451 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:151843374 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:20346956 more ... | HMG-CoA synthase 2 deficiency | | IAGP | RGD:10056243 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:151790634 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:151781014 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:151859133 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:151745023 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:151746156 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:151803777 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:151840983 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:12072887 more ... | HMG-CoA synthase 2 deficiency | | IAGP | RGD:8560981 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:11479731 more ... | HMG-CoA synthase 2 deficiency | | IAGP | RGD:151877839 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:151828867 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:28883802 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:151826210 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:151865930 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:17576681 more ... | HMG-CoA synthase 2 deficiency | | IAGP | RGD:151845422 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:151731341 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:151663350 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | | HMG-CoA synthase 2 deficiency | | IAGP | RGD:151661403 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:25741868 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:151661394 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:25741868 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:156179692 | 8554872 | ClinVar Annotator: match by term: HMG-CoA synthase-2 deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:126760114 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:126747106 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:28883806 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:8560983 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:12647205, PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:126751375 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:151234330 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:25741868 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:151234333 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:25741868 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:151234332 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:25741868 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:151234329 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:25741868 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:151816941 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:151234326 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:25741868 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:151234339 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:25741868 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:151234337 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:25741868 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:151824192 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:151234341 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:25741868 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:151739877 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:151234343 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:25741868 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:152106033 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:152042244 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:152086230 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:152160505 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:11578575 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:152171254 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:12839822 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:152040723 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:152074182 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:12843026 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:152032693 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:152118410 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:11579655 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:152038201 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:152051825 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:152073796 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:11581442 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:152040208 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:152027605 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:28889286 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | | HMG-CoA synthase 2 deficiency | | IAGP | RGD:28888971 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | | HMG-CoA synthase 2 deficiency | | IAGP | RGD:28894136 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | | HMG-CoA synthase 2 deficiency | | IAGP | RGD:28888981 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | | HMG-CoA synthase 2 deficiency | | IAGP | RGD:28894141 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | | HMG-CoA synthase 2 deficiency | | IAGP | RGD:28894139 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | | HMG-CoA synthase 2 deficiency | | IAGP | RGD:28888977 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | | HMG-CoA synthase 2 deficiency | | IAGP | RGD:28878169 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | | HMG-CoA synthase 2 deficiency | | IAGP | RGD:28888986 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | | HMG-CoA synthase 2 deficiency | | IAGP | RGD:28878173 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | | HMG-CoA synthase 2 deficiency | | IAGP | RGD:11581449 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:32259399 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:150333701 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:32259399 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:14719144 | 8554872 | ClinVar Annotator: match by term: MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:14717008 | 8554872 | ClinVar Annotator: match by term: MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:14736477 | 8554872 | ClinVar Annotator: match by term: MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:14726663 | 8554872 | ClinVar Annotator: match by term: MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:11581090 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:14738409 | 8554872 | ClinVar Annotator: match by term: MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:14736080 | 8554872 | ClinVar Annotator: match by term: MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:150338741 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:25741868 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:150335245 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:25741868 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:39457058 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:33045405 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:11579887 | 8554872 | ClinVar Annotator: match by term: MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:11580744 | 8554872 | ClinVar Annotator: match by term: MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:11581511 | 8554872 | ClinVar Annotator: match by term: MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:11581286 | 8554872 | ClinVar Annotator: match by term: MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY | ClinVar | PMID:25741868, PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:13828846 | 8554872 | ClinVar Annotator: match by term: MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY | ClinVar | | HMG-CoA synthase 2 deficiency | | IAGP | RGD:10058811 | 8554872 | ClinVar Annotator: match by term: MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:13816477 | 8554872 | ClinVar Annotator: match by term: MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:13815696 | 8554872 | ClinVar Annotator: match by term: MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:11582207 | 8554872 | ClinVar Annotator: match by term: MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:13806972 | 8554872 | ClinVar Annotator: match by term: MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:38458547 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:15119321 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:38479455 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:127243548 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:127258200 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:127275013 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:38488563 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:38482054 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:13620170 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:26903825 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:25741868 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:26923800 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:10056242 | 8554872 | ClinVar Annotator: match by term: MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:127234299 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:33045405 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:151877493 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:13487695 | 8554872 | ClinVar Annotator: match by term: MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:11665415 | 8554872 | ClinVar Annotator: match by term: MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY | ClinVar | | HMG-CoA synthase 2 deficiency | | IAGP | RGD:11579874 | 8554872 | ClinVar Annotator: match by term: MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:11580904 | 8554872 | ClinVar Annotator: match by term: MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY | ClinVar | | HMG-CoA synthase 2 deficiency | | IAGP | RGD:151829609 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:15196977 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:11595634 | 8554872 | ClinVar Annotator: match by term: MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY | ClinVar | | HMG-CoA synthase 2 deficiency | | IAGP | RGD:26914208 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:26903824 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:25741868 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:11665467 | 8554872 | ClinVar Annotator: match by term: MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY | ClinVar | | HMG-CoA synthase 2 deficiency | | IAGP | RGD:8560984 | 8554872 | ClinVar Annotator: match by term: MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY | ClinVar | PMID:12647205 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:11577565 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:11646923 | 8554872 | ClinVar Annotator: match by term: MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:28890694 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:20346956 more ... | HMG-CoA synthase 2 deficiency | | IAGP | RGD:26892834 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:11593714 | 8554872 | ClinVar Annotator: match by term: MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY | ClinVar | | HMG-CoA synthase 2 deficiency | | IAGP | RGD:26913617 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:38474892 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:38490661 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:15179454 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:26886209 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:12907172 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:151760867 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:127338136 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:13836666 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:11581728 | 8554872 | ClinVar Annotator: match by term: MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY | ClinVar | | HMG-CoA synthase 2 deficiency | | IAGP | RGD:11598115 | 8554872 | ClinVar Annotator: match by term: MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY | ClinVar | | HMG-CoA synthase 2 deficiency | | IAGP | RGD:11585105 | 8554872 | ClinVar Annotator: match by term: MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY | ClinVar | | HMG-CoA synthase 2 deficiency | | IAGP | RGD:14393679 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:14393680 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:12839460 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:38497353 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:13508842 | 8554872 | ClinVar Annotator: match by term: MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY | ClinVar | | HMG-CoA synthase 2 deficiency | | IAGP | RGD:13508688 | 8554872 | ClinVar Annotator: match by term: MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY | ClinVar | | HMG-CoA synthase 2 deficiency | | IAGP | RGD:11581982 | 8554872 | ClinVar Annotator: match by term: MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:11578809 | 8554872 | ClinVar Annotator: match by term: MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY | ClinVar | | HMG-CoA synthase 2 deficiency | | IAGP | RGD:126919062 | 8554872 | ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ClinVar | PMID:28492532 | HMG-CoA synthase 2 deficiency | | IAGP | RGD:8560980 | 8554872 | ClinVar Annotator: match by term: MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY | ClinVar | PMID:11228257 more ... | HMG-CoA synthase 2 deficiency | | IAGP | RGD:11665605 | 8554872 | ClinVar Annotator: match by term: MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY | ClinVar | | PHGDH deficiency | | IAGP | RGD:11665605 | 8554872 | ClinVar Annotator: match by term: PHGDH DEFICIENCY | ClinVar | | PHGDH deficiency | | IAGP | RGD:156439579 | 8554872 | ClinVar Annotator: match by term: PHGDH deficiency | ClinVar | PMID:28492532 | PHGDH deficiency | | IAGP | RGD:11665415 | 8554872 | ClinVar Annotator: match by term: PHGDH DEFICIENCY | ClinVar | | PHGDH deficiency | | IAGP | RGD:11665467 | 8554872 | ClinVar Annotator: match by term: PHGDH DEFICIENCY | ClinVar | | PHGDH deficiency | | IAGP | RGD:151774094 | 8554872 | ClinVar Annotator: match by term: Phosphoglycerate dehydrogenase deficiency | ClinVar | PMID:28492532 | |
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Imported Disease Annotations - CTD
Imported Disease Annotations - OMIM
Gene-Chemical Interaction Annotations Click to see Annotation Detail View
Gene Ontology Annotations Click to see Annotation Detail View
Biological Process
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Molecular Function
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Imported Annotations - SMPDB
Imported Annotations - KEGG (archival)
Phenotype Annotations Click to see Annotation Detail View
Imported Human Phenotype Annotations - HPO
Disease Annotations
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Gene Ontology Annotations
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Molecular Function
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Molecular Pathway Annotations
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Phenotype Annotations
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Human Phenotype
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References
References - curated
| # | Reference Title | Reference Citation |
| 1. | The ketogenic diet; fatty acids, fatty acid-activated receptors and neurological disorders. | Cullingford TE Prostaglandins Leukot Essent Fatty Acids. 2004 Mar;70(3):253-64. |
| 2. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
| 3. | Transcriptional regulation of mitochondrial HMG-CoA synthase in the control of ketogenesis. | Hegardt FG Biochimie. 1998 Oct;80(10):803-6. |
| 4. | Impaired ketogenesis is a major mechanism for disturbed hepatic fatty acid metabolism in rats with long-term cholestasis and after relief of biliary obstruction. | Lang C, etal., J Hepatol. 2002 Nov;37(5):564-71. |
| 5. | Two-dimensional electrophoresis of liver proteins: characterization of a drug-induced hepatomegaly in rats. | Newsholme SJ, etal., Electrophoresis. 2000 Jun;21(11):2122-8. |
| 6. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 7. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
| 8. | SMPDB Annotation Import Pipeline | Pipeline to import SMPDB annotations from SMPDB into RGD |
| 9. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 10. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 11. | Regulation of mitochondrial 3-hydroxy-3-methylglutaryl-coenzyme A synthase protein by starvation, fat feeding, and diabetes. | Serra D, etal., Arch Biochem Biophys. 1993 Nov 15;307(1):40-5. |
| 12. | miR-107-mediated decrease of HMGCS2 indicates poor outcomes and promotes cell migration in hepatocellular carcinoma. | Su SG, etal., Int J Biochem Cell Biol. 2017 Oct;91(Pt A):53-59. doi: 10.1016/j.biocel.2017.08.016. Epub 2017 Sep 1. |
Additional References at PubMed
| PMID:6986618 | PMID:7851882 | PMID:7893153 | PMID:9305755 | PMID:11228257 | PMID:11479731 | PMID:12477932 | PMID:12647205 | PMID:15489334 | PMID:16940161 | PMID:17387528 | PMID:18636124 |
| PMID:18660489 | PMID:19913121 | PMID:20346956 | PMID:20549515 | PMID:20618440 | PMID:20628086 | PMID:20877624 | PMID:21502324 | PMID:21832049 | PMID:21873635 | PMID:21952825 | PMID:22496890 |
| PMID:23751782 | PMID:23943793 | PMID:25389781 | PMID:25929810 | PMID:27503909 | PMID:27816970 | PMID:28320515 | PMID:28514442 | PMID:28676675 | PMID:28888048 | PMID:29523524 | PMID:30021884 |
| PMID:30097533 | PMID:30567295 | PMID:31176575 | PMID:31355161 | PMID:31546785 | PMID:31910233 | PMID:31932471 | PMID:32235678 | PMID:32259399 | PMID:33045405 | PMID:33845483 | PMID:33961781 |
| PMID:34238920 | PMID:34260294 | PMID:34274945 | PMID:34624592 | PMID:34944058 | PMID:35421611 | PMID:36629048 |
Genomics
Comparative Map Data
| HMGCS2 (Homo sapiens - human) |
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| Hmgcs2 (Mus musculus - house mouse) |
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| Hmgcs2 (Rattus norvegicus - Norway rat) |
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| Hmgcs2 (Chinchilla lanigera - long-tailed chinchilla) |
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| HMGCS2 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| HMGCS2 (Canis lupus familiaris - dog) |
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| Hmgcs2 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| HMGCS2 (Sus scrofa - pig) |
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| HMGCS2 (Chlorocebus sabaeus - green monkey) |
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| Hmgcs2 (Heterocephalus glaber - naked mole-rat) |
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Variants
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Variants in HMGCS2
189 total Variants 
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