Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
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	.