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: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	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency		88
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	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	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040282 - Frequent	88
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	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