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:0000816 | HP:0000816 | Abnormality of Krebs cycle metabolism | 0 | ATP6 CL E G H | 4508 | 7414 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000816 | HP:0000816 | Abnormality of Krebs cycle metabolism | 0 | FH CL E G H | 2271 | 3700 | OMIM:150800 | Hereditary leiomyomatosis and renal cell cancer | | | | 301 | | |
HP:0000816 | HP:0000816 | Abnormality of Krebs cycle metabolism | 0 | FXN CL E G H | 2395 | 3951 | OMIM:229300 | Friedreich ataxia 1 | | | | 18 | | |
HP:0000816 | HP:0000816 | Abnormality of Krebs cycle metabolism | 0 | MMAA CL E G H | 166785 | 18871 | OMIM:251100 | Methylmalonic aciduria, Cbla type | | | | 113 | | |
HP:0000816 | HP:0000816 | Abnormality of Krebs cycle metabolism | 0 | MMAB CL E G H | 326625 | 19331 | OMIM:251110 | Methylmalonic aciduria, Cblb type | | | | 127 | | |
HP:0000816 | HP:0000816 | Abnormality of Krebs cycle metabolism | 0 | MMACHC CL E G H | 25974 | 24525 | OMIM:277400 | Methylmalonic aciduria and homocystinuria, Cblc type | | | | 101 | | |
HP:0000816 | HP:0000816 | Abnormality of Krebs cycle metabolism | 0 | MMADHC CL E G H | 27249 | 25221 | OMIM:277410 | Methylmalonic aciduria and homocystinuria, Cbld type | | | | 50 | | |
HP:0000816 | HP:0000816 | Abnormality of Krebs cycle metabolism | 0 | ND1 CL E G H | 4535 | 7455 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000816 | HP:0000816 | Abnormality of Krebs cycle metabolism | 0 | ND2 CL E G H | 4536 | 7456 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000816 | HP:0000816 | Abnormality of Krebs cycle metabolism | 0 | ND3 CL E G H | 4537 | 7458 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000816 | HP:0000816 | Abnormality of Krebs cycle metabolism | 0 | ND4 CL E G H | 4538 | 7459 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000816 | HP:0000816 | Abnormality of Krebs cycle metabolism | 0 | ND5 CL E G H | 4540 | 7461 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000816 | HP:0000816 | Abnormality of Krebs cycle metabolism | 0 | ND6 CL E G H | 4541 | 7462 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000816 | HP:0000816 | Abnormality of Krebs cycle metabolism | 0 | OGDH CL E G H | 4967 | 8124 | ORPHA:31 | Oxoglutaric aciduria | HP:0040281 - Very frequent | | | | | |
HP:0000816 | HP:0000816 | Abnormality of Krebs cycle metabolism | 0 | PRDX1 CL E G H | 5052 | 9352 | OMIM:277400 | Methylmalonic aciduria and homocystinuria, Cblc type | | | | | | |
HP:0000816 | HP:0000816 | Abnormality of Krebs cycle metabolism | 0 | TRNK CL E G H | 4566 | 7489 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000816 | HP:0000816 | Abnormality of Krebs cycle metabolism | 0 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000816 | HP:0000816 | Abnormality of Krebs cycle metabolism | 0 | TRNV CL E G H | 4577 | 7500 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000816 | HP:0000816 | Abnormality of Krebs cycle metabolism | 0 | TRNW CL E G H | 4578 | 7501 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000816 | HP:0003536 | Decreased fumarate hydratase activity | 1 | FH CL E G H | 2271 | 3700 | OMIM:150800 | Hereditary leiomyomatosis and renal cell cancer | . | | | 301 | | |
HP:0000816 | HP:0003209 | Decreased pyruvate carboxylase activity | 1 | FXN CL E G H | 2395 | 3951 | OMIM:229300 | Friedreich ataxia 1 | . | | | 18 | | |
HP:0000816 | HP:0003210 | Decreased methylmalonyl-CoA mutase activity | 1 | MMAA CL E G H | 166785 | 18871 | OMIM:251100 | Methylmalonic aciduria, Cbla type | . | | | 113 | | |
HP:0000816 | HP:0003210 | Decreased methylmalonyl-CoA mutase activity | 1 | MMAB CL E G H | 326625 | 19331 | OMIM:251110 | Methylmalonic aciduria, Cblb type | . | | | 127 | | |
HP:0000816 | HP:0003210 | Decreased methylmalonyl-CoA mutase activity | 1 | MMACHC CL E G H | 25974 | 24525 | OMIM:277400 | Methylmalonic aciduria and homocystinuria, Cblc type | . | | | 101 | | |
HP:0000816 | HP:0003210 | Decreased methylmalonyl-CoA mutase activity | 1 | MMADHC CL E G H | 27249 | 25221 | OMIM:277410 | Methylmalonic aciduria and homocystinuria, Cbld type | . | | | 50 | | |
HP:0000816 | HP:0003210 | Decreased methylmalonyl-CoA mutase activity | 1 | PRDX1 CL E G H | 5052 | 9352 | OMIM:277400 | Methylmalonic aciduria and homocystinuria, Cblc type | . | | | | | |