Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0004366 | HP:0004366 | Abnormality of glycolysis | 0 | ACAT2 CL E G H | 39 | 94 | OMIM:614055 | Acetyl-Coa acetyltransferase-2 deficiency | | | | | | |
HP:0004366 | HP:0004366 | Abnormality of glycolysis | 0 | AIFM1 CL E G H | 9131 | 8768 | OMIM:300816 | Combined oxidative phosphorylation deficiency 6 | | | | 60 | | |
HP:0004366 | HP:0004366 | Abnormality of glycolysis | 0 | AIFM1 CL E G H | 9131 | 8768 | ORPHA:238329 | Severe X-linked mitochondrial encephalomyopathy | | | | 60 | | |
HP:0004366 | HP:0004366 | Abnormality of glycolysis | 0 | BCS1L CL E G H | 617 | 1020 | OMIM:603358 | GRACILE SYNDROME | | | | 72 | | |
HP:0004366 | HP:0004366 | Abnormality of glycolysis | 0 | COX10 CL E G H | 1352 | 2260 | OMIM:619046 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3 | | | | 82 | | |
HP:0004366 | HP:0004366 | Abnormality of glycolysis | 0 | COX16 CL E G H | 51241 | 20213 | OMIM:619355 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22 | | | | | | |
HP:0004366 | HP:0004366 | Abnormality of glycolysis | 0 | COX6A2 CL E G H | 1339 | 2279 | OMIM:619062 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 18; MC4DN18 | | | | | | |
HP:0004366 | HP:0004366 | Abnormality of glycolysis | 0 | DLD CL E G H | 1738 | 2898 | OMIM:246900 | Dihydrolipoamide dehydrogenase deficiency | | | | 89 | | |
HP:0004366 | HP:0004366 | Abnormality of glycolysis | 0 | FOXRED1 CL E G H | 55572 | 26927 | ORPHA:2609 | Isolated complex I deficiency | | | | 61 | | |
HP:0004366 | HP:0004366 | Abnormality of glycolysis | 0 | KARS1 CL E G H | 3735 | 6215 | OMIM:619147 | LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID | | | | | | |
HP:0004366 | HP:0004366 | Abnormality of glycolysis | 0 | LDHA CL E G H | 3939 | 6535 | OMIM:612933 | Glycogen storage disease XI | | | | 35 | | |
HP:0004366 | HP:0004366 | Abnormality of glycolysis | 0 | LIPT2 CL E G H | 387787 | 37216 | OMIM:617668 | Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities | | | | 2 | | |
HP:0004366 | HP:0004366 | Abnormality of glycolysis | 0 | LONP1 CL E G H | 9361 | 9479 | ORPHA:79243 | Pyruvate dehydrogenase E1-alpha deficiency | | | | 8 | | |
HP:0004366 | HP:0004366 | Abnormality of glycolysis | 0 | MECP2 CL E G H | 4204 | 6990 | ORPHA:778 | Rett syndrome | | | | 950 | | |
HP:0004366 | HP:0004366 | Abnormality of glycolysis | 0 | MPC1 CL E G H | 51660 | 21606 | OMIM:614741 | Mitochondrial pyruvate carrier deficiency | | | | 6 | | |
HP:0004366 | HP:0004366 | Abnormality of glycolysis | 0 | ND1 CL E G H | 4535 | 7455 | ORPHA:2609 | Isolated complex I deficiency | | | | | | |
HP:0004366 | HP:0004366 | Abnormality of glycolysis | 0 | ND2 CL E G H | 4536 | 7456 | ORPHA:2609 | Isolated complex I deficiency | | | | | | |
HP:0004366 | HP:0004366 | Abnormality of glycolysis | 0 | ND3 CL E G H | 4537 | 7458 | ORPHA:2609 | Isolated complex I deficiency | | | | | | |
HP:0004366 | HP:0004366 | Abnormality of glycolysis | 0 | NDUFA1 CL E G H | 4694 | 7683 | ORPHA:2609 | Isolated complex I deficiency | | | | 7 | | |
HP:0004366 | HP:0004366 | Abnormality of glycolysis | 0 | NDUFA11 CL E G H | 126328 | 20371 | ORPHA:2609 | Isolated complex I deficiency | | | | 32 | | |
HP:0004366 | HP:0004366 | Abnormality of glycolysis | 0 | NDUFA6 CL E G H | 4700 | 7690 | ORPHA:2609 | Isolated complex I deficiency | | | | 1 | | |
HP:0004366 | HP:0004366 | Abnormality of glycolysis | 0 | NDUFAF1 CL E G H | 51103 | 18828 | ORPHA:2609 | Isolated complex I deficiency | | | | 40 | | |
HP:0004366 | HP:0004366 | Abnormality of glycolysis | 0 | NDUFAF2 CL E G H | 91942 | 28086 | ORPHA:2609 | Isolated complex I deficiency | | | | 26 | | |
HP:0004366 | HP:0004366 | Abnormality of glycolysis | 0 | NDUFAF3 CL E G H | 25915 | 29918 | ORPHA:2609 | Isolated complex I deficiency | | | | 31 | | |
HP:0004366 | HP:0004366 | Abnormality of glycolysis | 0 | NDUFAF4 CL E G H | 29078 | 21034 | ORPHA:2609 | Isolated complex I deficiency | | | | 50 | | |
HP:0004366 | HP:0004366 | Abnormality of glycolysis | 0 | NDUFAF5 CL E G H | 79133 | 15899 | ORPHA:2609 | Isolated complex I deficiency | | | | 34 | | |
HP:0004366 | HP:0004366 | Abnormality of glycolysis | 0 | NDUFAF8 CL E G H | 284184 | 33551 | ORPHA:2609 | Isolated complex I deficiency | | | | | | |
HP:0004366 | HP:0004366 | Abnormality of glycolysis | 0 | NDUFB10 CL E G H | 4716 | 7696 | ORPHA:2609 | Isolated complex I deficiency | | | | | | |
HP:0004366 | HP:0004366 | Abnormality of glycolysis | 0 | NDUFB11 CL E G H | 54539 | 20372 | ORPHA:2609 | Isolated complex I deficiency | | | | 3 | | |
HP:0004366 | HP:0004366 | Abnormality of glycolysis | 0 | NDUFB3 CL E G H | 4709 | 7698 | ORPHA:2609 | Isolated complex I deficiency | | | | 9 | | |
HP:0004366 | HP:0004366 | Abnormality of glycolysis | 0 | NDUFB9 CL E G H | 4715 | 7704 | ORPHA:2609 | Isolated complex I deficiency | | | | 16 | | |
HP:0004366 | HP:0004366 | Abnormality of glycolysis | 0 | NDUFS1 CL E G H | 4719 | 7707 | ORPHA:2609 | Isolated complex I deficiency | | | | 81 | | |
HP:0004366 | HP:0004366 | Abnormality of glycolysis | 0 | NDUFS2 CL E G H | 4720 | 7708 | ORPHA:2609 | Isolated complex I deficiency | | | | 65 | | |
HP:0004366 | HP:0004366 | Abnormality of glycolysis | 0 | NDUFS3 CL E G H | 4722 | 7710 | ORPHA:2609 | Isolated complex I deficiency | | | | 22 | | |
HP:0004366 | HP:0004366 | Abnormality of glycolysis | 0 | NDUFS4 CL E G H | 4724 | 7711 | ORPHA:2609 | Isolated complex I deficiency | | | | 27 | | |
HP:0004366 | HP:0004366 | Abnormality of glycolysis | 0 | NDUFS6 CL E G H | 4726 | 7713 | ORPHA:2609 | Isolated complex I deficiency | | | | 21 | | |
HP:0004366 | HP:0004366 | Abnormality of glycolysis | 0 | NDUFS7 CL E G H | 374291 | 7714 | ORPHA:2609 | Isolated complex I deficiency | | | | 38 | | |
HP:0004366 | HP:0004366 | Abnormality of glycolysis | 0 | NDUFS8 CL E G H | 4728 | 7715 | ORPHA:2609 | Isolated complex I deficiency | | | | 42 | | |
HP:0004366 | HP:0004366 | Abnormality of glycolysis | 0 | NDUFS8 CL E G H | 4728 | 7715 | OMIM:618222 | Mitochondrial complex I deficiency, nuclear type 2 | | | | 42 | | |
HP:0004366 | HP:0004366 | Abnormality of glycolysis | 0 | NDUFV1 CL E G H | 4723 | 7716 | ORPHA:2609 | Isolated complex I deficiency | | | | 74 | | |
HP:0004366 | HP:0004366 | Abnormality of glycolysis | 0 | NDUFV1 CL E G H | 4723 | 7716 | OMIM:618225 | Mitochondrial complex I deficiency, nuclear type 4 | | | | 74 | | |
HP:0004366 | HP:0004366 | Abnormality of glycolysis | 0 | NDUFV2 CL E G H | 4729 | 7717 | ORPHA:2609 | Isolated complex I deficiency | | | | 27 | | |
HP:0004366 | HP:0004366 | Abnormality of glycolysis | 0 | NUBPL CL E G H | 80224 | 20278 | ORPHA:2609 | Isolated complex I deficiency | | | | 89 | | |
HP:0004366 | HP:0004366 | Abnormality of glycolysis | 0 | PC CL E G H | 5091 | 8636 | OMIM:266150 | Pyruvate carboxylase deficiency | | | | 118 | | |
HP:0004366 | HP:0004366 | Abnormality of glycolysis | 0 | PDHA1 CL E G H | 5160 | 8806 | OMIM:312170 | Pyruvate dehydrogenase e1-alpha deficiency | | | | 88 | | |
HP:0004366 | HP:0004366 | Abnormality of glycolysis | 0 | PDHA1 CL E G H | 5160 | 8806 | ORPHA:79243 | Pyruvate dehydrogenase E1-alpha deficiency | | | | 88 | | |
HP:0004366 | HP:0004366 | Abnormality of glycolysis | 0 | PDHX CL E G H | 8050 | 21350 | OMIM:245349 | Pyruvate dehydrogenase e3-binding protein deficiency | | | | 98 | | |
HP:0004366 | HP:0004366 | Abnormality of glycolysis | 0 | PITRM1 CL E G H | 10531 | 17663 | OMIM:619405 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30; SCAR30 | | | | 1 | | |
HP:0004366 | HP:0004366 | Abnormality of glycolysis | 0 | PNPLA8 CL E G H | 50640 | 28900 | OMIM:251950 | Mitochondrial myopathy with lactic acidosis | | | | 3 | | |
HP:0004366 | HP:0004366 | Abnormality of glycolysis | 0 | POLG CL E G H | 5428 | 9179 | ORPHA:94125 | Recessive mitochondrial ataxia syndrome | | | | 464 | | |
HP:0004366 | HP:0004366 | Abnormality of glycolysis | 0 | SCO2 CL E G H | 9997 | 10604 | OMIM:604377 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 | | | | 40 | | |
HP:0004366 | HP:0004366 | Abnormality of glycolysis | 0 | SDHB CL E G H | 6390 | 10681 | OMIM:619224 | MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4 | | | | 237 | | |
HP:0004366 | HP:0004366 | Abnormality of glycolysis | 0 | SLC25A26 CL E G H | 115286 | 20661 | OMIM:616794 | Combined oxidative phosphorylation deficiency 28 | | | | 5 | | |
HP:0004366 | HP:0004366 | Abnormality of glycolysis | 0 | TIMMDC1 CL E G H | 51300 | 1321 | ORPHA:2609 | Isolated complex I deficiency | | | | 1 | | |
HP:0004366 | HP:0004366 | Abnormality of glycolysis | 0 | TMEM126B CL E G H | 55863 | 30883 | ORPHA:2609 | Isolated complex I deficiency | | | | 4 | | |
HP:0004366 | HP:0004366 | Abnormality of glycolysis | 0 | TRNF CL E G H | 4558 | 7481 | OMIM:545000 | Myoclonic epilepsy associated with ragged-red fibers | | | | | | |
HP:0004366 | HP:0004366 | Abnormality of glycolysis | 0 | TRNI CL E G H | 4565 | 7488 | OMIM:545000 | Myoclonic epilepsy associated with ragged-red fibers | | | | | | |
HP:0004366 | HP:0004366 | Abnormality of glycolysis | 0 | TRNK CL E G H | 4566 | 7489 | ORPHA:1349 | Mitochondrial DNA-related cardiomyopathy and hearing loss | | | | | | |
HP:0004366 | HP:0004366 | Abnormality of glycolysis | 0 | TRNK CL E G H | 4566 | 7489 | OMIM:545000 | Myoclonic epilepsy associated with ragged-red fibers | | | | | | |
HP:0004366 | HP:0004366 | Abnormality of glycolysis | 0 | TRNL1 CL E G H | 4567 | 7490 | OMIM:545000 | Myoclonic epilepsy associated with ragged-red fibers | | | | | | |
HP:0004366 | HP:0004366 | Abnormality of glycolysis | 0 | TRNP CL E G H | 4571 | 7494 | OMIM:545000 | Myoclonic epilepsy associated with ragged-red fibers | | | | | | |
HP:0004366 | HP:0004366 | Abnormality of glycolysis | 0 | TWNK CL E G H | 56652 | 1160 | OMIM:616138 | Perrault syndrome 5 | | | | 113 | | |
HP:0004366 | HP:0004366 | Abnormality of glycolysis | 0 | UQCRC2 CL E G H | 7385 | 12586 | OMIM:615160 | Mitochondrial complex III deficiency, nuclear type 5 | | | | 17 | | |
HP:0004366 | HP:0003542 | Increased serum pyruvate | 1 | ACAT2 CL E G H | 39 | 94 | OMIM:614055 | Acetyl-Coa acetyltransferase-2 deficiency | . | | | | | |
HP:0004366 | HP:0003542 | Increased serum pyruvate | 1 | AIFM1 CL E G H | 9131 | 8768 | OMIM:300816 | Combined oxidative phosphorylation deficiency 6 | . | | | 60 | | |
HP:0004366 | HP:0003542 | Increased serum pyruvate | 1 | AIFM1 CL E G H | 9131 | 8768 | ORPHA:238329 | Severe X-linked mitochondrial encephalomyopathy | HP:0040282 - Frequent | | | 60 | | |
HP:0004366 | HP:0003542 | Increased serum pyruvate | 1 | BCS1L CL E G H | 617 | 1020 | OMIM:603358 | GRACILE SYNDROME | | | | 72 | | |
HP:0004366 | HP:0003542 | Increased serum pyruvate | 1 | COX10 CL E G H | 1352 | 2260 | OMIM:619046 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3 | | | | 82 | | |
HP:0004366 | HP:0003542 | Increased serum pyruvate | 1 | COX16 CL E G H | 51241 | 20213 | OMIM:619355 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22 | | | | | | |
HP:0004366 | HP:0003542 | Increased serum pyruvate | 1 | COX6A2 CL E G H | 1339 | 2279 | OMIM:619062 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 18; MC4DN18 | | | | | | |
HP:0004366 | HP:0003542 | Increased serum pyruvate | 1 | DLD CL E G H | 1738 | 2898 | OMIM:246900 | Dihydrolipoamide dehydrogenase deficiency | | | | 89 | | |
HP:0004366 | HP:0003542 | Increased serum pyruvate | 1 | FOXRED1 CL E G H | 55572 | 26927 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 61 | | |
HP:0004366 | HP:0003542 | Increased serum pyruvate | 1 | KARS1 CL E G H | 3735 | 6215 | OMIM:619147 | LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID | | | | | | |
HP:0004366 | HP:0003542 | Increased serum pyruvate | 1 | LDHA CL E G H | 3939 | 6535 | OMIM:612933 | Glycogen storage disease XI | . | | | 35 | | |
HP:0004366 | HP:0003542 | Increased serum pyruvate | 1 | LIPT2 CL E G H | 387787 | 37216 | OMIM:617668 | Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities | . | | | 2 | | |
HP:0004366 | HP:0003542 | Increased serum pyruvate | 1 | LONP1 CL E G H | 9361 | 9479 | ORPHA:79243 | Pyruvate dehydrogenase E1-alpha deficiency | HP:0040282 - Frequent | | | 8 | | |
HP:0004366 | HP:0003542 | Increased serum pyruvate | 1 | MECP2 CL E G H | 4204 | 6990 | ORPHA:778 | Rett syndrome | HP:0040283 - Occasional | | | 950 | | |
HP:0004366 | HP:0003542 | Increased serum pyruvate | 1 | MPC1 CL E G H | 51660 | 21606 | OMIM:614741 | Mitochondrial pyruvate carrier deficiency | . | | | 6 | | |
HP:0004366 | HP:0003542 | Increased serum pyruvate | 1 | ND1 CL E G H | 4535 | 7455 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | | | |
HP:0004366 | HP:0003542 | Increased serum pyruvate | 1 | ND2 CL E G H | 4536 | 7456 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | | | |
HP:0004366 | HP:0003542 | Increased serum pyruvate | 1 | ND3 CL E G H | 4537 | 7458 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | | | |
HP:0004366 | HP:0003542 | Increased serum pyruvate | 1 | NDUFA1 CL E G H | 4694 | 7683 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 7 | | |
HP:0004366 | HP:0003542 | Increased serum pyruvate | 1 | NDUFA11 CL E G H | 126328 | 20371 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 32 | | |
HP:0004366 | HP:0003542 | Increased serum pyruvate | 1 | NDUFA6 CL E G H | 4700 | 7690 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 1 | | |
HP:0004366 | HP:0003542 | Increased serum pyruvate | 1 | NDUFAF1 CL E G H | 51103 | 18828 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 40 | | |
HP:0004366 | HP:0003542 | Increased serum pyruvate | 1 | NDUFAF2 CL E G H | 91942 | 28086 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 26 | | |
HP:0004366 | HP:0003542 | Increased serum pyruvate | 1 | NDUFAF3 CL E G H | 25915 | 29918 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 31 | | |
HP:0004366 | HP:0003542 | Increased serum pyruvate | 1 | NDUFAF4 CL E G H | 29078 | 21034 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 50 | | |
HP:0004366 | HP:0003542 | Increased serum pyruvate | 1 | NDUFAF5 CL E G H | 79133 | 15899 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 34 | | |
HP:0004366 | HP:0003542 | Increased serum pyruvate | 1 | NDUFAF8 CL E G H | 284184 | 33551 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | | | |
HP:0004366 | HP:0003542 | Increased serum pyruvate | 1 | NDUFB10 CL E G H | 4716 | 7696 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | | | |
HP:0004366 | HP:0003542 | Increased serum pyruvate | 1 | NDUFB11 CL E G H | 54539 | 20372 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 3 | | |
HP:0004366 | HP:0003542 | Increased serum pyruvate | 1 | NDUFB3 CL E G H | 4709 | 7698 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 9 | | |
HP:0004366 | HP:0003542 | Increased serum pyruvate | 1 | NDUFB9 CL E G H | 4715 | 7704 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 16 | | |
HP:0004366 | HP:0003542 | Increased serum pyruvate | 1 | NDUFS1 CL E G H | 4719 | 7707 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 81 | | |
HP:0004366 | HP:0003542 | Increased serum pyruvate | 1 | NDUFS2 CL E G H | 4720 | 7708 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 65 | | |
HP:0004366 | HP:0003542 | Increased serum pyruvate | 1 | NDUFS3 CL E G H | 4722 | 7710 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 22 | | |
HP:0004366 | HP:0003542 | Increased serum pyruvate | 1 | NDUFS4 CL E G H | 4724 | 7711 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 27 | | |
HP:0004366 | HP:0003542 | Increased serum pyruvate | 1 | NDUFS6 CL E G H | 4726 | 7713 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 21 | | |
HP:0004366 | HP:0003542 | Increased serum pyruvate | 1 | NDUFS7 CL E G H | 374291 | 7714 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 38 | | |
HP:0004366 | HP:0003542 | Increased serum pyruvate | 1 | NDUFS8 CL E G H | 4728 | 7715 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 42 | | |
HP:0004366 | HP:0003542 | Increased serum pyruvate | 1 | NDUFS8 CL E G H | 4728 | 7715 | OMIM:618222 | Mitochondrial complex I deficiency, nuclear type 2 | | | | 42 | | |
HP:0004366 | HP:0003542 | Increased serum pyruvate | 1 | NDUFV1 CL E G H | 4723 | 7716 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 74 | | |
HP:0004366 | HP:0003542 | Increased serum pyruvate | 1 | NDUFV1 CL E G H | 4723 | 7716 | OMIM:618225 | Mitochondrial complex I deficiency, nuclear type 4 | | | | 74 | | |
HP:0004366 | HP:0003542 | Increased serum pyruvate | 1 | NDUFV2 CL E G H | 4729 | 7717 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 27 | | |
HP:0004366 | HP:0003542 | Increased serum pyruvate | 1 | NUBPL CL E G H | 80224 | 20278 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 89 | | |
HP:0004366 | HP:0003542 | Increased serum pyruvate | 1 | PC CL E G H | 5091 | 8636 | OMIM:266150 | Pyruvate carboxylase deficiency | . | | | 118 | | |
HP:0004366 | HP:0003542 | Increased serum pyruvate | 1 | PDHA1 CL E G H | 5160 | 8806 | OMIM:312170 | Pyruvate dehydrogenase e1-alpha deficiency | | | | 88 | | |
HP:0004366 | HP:0003542 | Increased serum pyruvate | 1 | PDHA1 CL E G H | 5160 | 8806 | ORPHA:79243 | Pyruvate dehydrogenase E1-alpha deficiency | HP:0040282 - Frequent | | | 88 | | |
HP:0004366 | HP:0003542 | Increased serum pyruvate | 1 | PDHX CL E G H | 8050 | 21350 | OMIM:245349 | Pyruvate dehydrogenase e3-binding protein deficiency | . | | | 98 | | |
HP:0004366 | HP:0003542 | Increased serum pyruvate | 1 | PITRM1 CL E G H | 10531 | 17663 | OMIM:619405 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30; SCAR30 | | | | 1 | | |
HP:0004366 | HP:0003542 | Increased serum pyruvate | 1 | PNPLA8 CL E G H | 50640 | 28900 | OMIM:251950 | Mitochondrial myopathy with lactic acidosis | . | | | 3 | | |
HP:0004366 | HP:0003542 | Increased serum pyruvate | 1 | POLG CL E G H | 5428 | 9179 | ORPHA:94125 | Recessive mitochondrial ataxia syndrome | HP:0040282 - Frequent | | | 464 | | |
HP:0004366 | HP:0003542 | Increased serum pyruvate | 1 | SCO2 CL E G H | 9997 | 10604 | OMIM:604377 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 | | | | 40 | | |
HP:0004366 | HP:0003542 | Increased serum pyruvate | 1 | SDHB CL E G H | 6390 | 10681 | OMIM:619224 | MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4 | | | | 237 | | |
HP:0004366 | HP:0003542 | Increased serum pyruvate | 1 | SLC25A26 CL E G H | 115286 | 20661 | OMIM:616794 | Combined oxidative phosphorylation deficiency 28 | HP:0040283 - Occasional | | | 5 | | |
HP:0004366 | HP:0003542 | Increased serum pyruvate | 1 | TIMMDC1 CL E G H | 51300 | 1321 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 1 | | |
HP:0004366 | HP:0003542 | Increased serum pyruvate | 1 | TMEM126B CL E G H | 55863 | 30883 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 4 | | |
HP:0004366 | HP:0003542 | Increased serum pyruvate | 1 | TRNF CL E G H | 4558 | 7481 | OMIM:545000 | Myoclonic epilepsy associated with ragged-red fibers | . | | | | | |
HP:0004366 | HP:0003542 | Increased serum pyruvate | 1 | TRNI CL E G H | 4565 | 7488 | OMIM:545000 | Myoclonic epilepsy associated with ragged-red fibers | . | | | | | |
HP:0004366 | HP:0003542 | Increased serum pyruvate | 1 | TRNK CL E G H | 4566 | 7489 | ORPHA:1349 | Mitochondrial DNA-related cardiomyopathy and hearing loss | HP:0040282 - Frequent | | | | | |
HP:0004366 | HP:0003542 | Increased serum pyruvate | 1 | TRNK CL E G H | 4566 | 7489 | OMIM:545000 | Myoclonic epilepsy associated with ragged-red fibers | . | | | | | |
HP:0004366 | HP:0003542 | Increased serum pyruvate | 1 | TRNL1 CL E G H | 4567 | 7490 | OMIM:545000 | Myoclonic epilepsy associated with ragged-red fibers | . | | | | | |
HP:0004366 | HP:0003542 | Increased serum pyruvate | 1 | TRNP CL E G H | 4571 | 7494 | OMIM:545000 | Myoclonic epilepsy associated with ragged-red fibers | . | | | | | |
HP:0004366 | HP:0003542 | Increased serum pyruvate | 1 | TWNK CL E G H | 56652 | 1160 | OMIM:616138 | Perrault syndrome 5 | . | | | 113 | | |
HP:0004366 | HP:0003542 | Increased serum pyruvate | 1 | UQCRC2 CL E G H | 7385 | 12586 | OMIM:615160 | Mitochondrial complex III deficiency, nuclear type 5 | | | | 17 | | |