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:0010915	HP:0010915	Abnormal circulating pyruvate family amino acid concentration	0	ALDH4A1 CL E G H	8659	406	ORPHA:79101	Hyperprolinemia type 2		74
HP:0010915	HP:0010915	Abnormal circulating pyruvate family amino acid concentration	0	ATP5F1A CL E G H	498	823	OMIM:616045	Combined oxidative phosphorylation deficiency 22
HP:0010915	HP:0010915	Abnormal circulating pyruvate family amino acid concentration	0	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0010915	HP:0010915	Abnormal circulating pyruvate family amino acid concentration	0	CA5A CL E G H	763	1377	OMIM:615751	Hyperammonemia due to carbonic anhydrase VA deficiency		10
HP:0010915	HP:0010915	Abnormal circulating pyruvate family amino acid concentration	0	COQ9 CL E G H	57017	25302	OMIM:614654	Coenzyme Q10 deficiency, primary, 5		44
HP:0010915	HP:0010915	Abnormal circulating pyruvate family amino acid concentration	0	COX10 CL E G H	1352	2260	OMIM:619046	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3		82
HP:0010915	HP:0010915	Abnormal circulating pyruvate family amino acid concentration	0	COX16 CL E G H	51241	20213	OMIM:619355	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0010915	HP:0010915	Abnormal circulating pyruvate family amino acid concentration	0	COX5A CL E G H	9377	2267	OMIM:619064	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0010915	HP:0010915	Abnormal circulating pyruvate family amino acid concentration	0	COX6B1 CL E G H	1340	2280	OMIM:619051	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7		10
HP:0010915	HP:0010915	Abnormal circulating pyruvate family amino acid concentration	0	COX8A CL E G H	1351	2294	OMIM:619059	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15; MC4DN15		1
HP:0010915	HP:0010915	Abnormal circulating pyruvate family amino acid concentration	0	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1		94
HP:0010915	HP:0010915	Abnormal circulating pyruvate family amino acid concentration	0	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0010915	HP:0010915	Abnormal circulating pyruvate family amino acid concentration	0	FBP1 CL E G H	2203	3606	ORPHA:348	Fructose-1,6-bisphosphatase deficiency		64
HP:0010915	HP:0010915	Abnormal circulating pyruvate family amino acid concentration	0	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)		384
HP:0010915	HP:0010915	Abnormal circulating pyruvate family amino acid concentration	0	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0010915	HP:0010915	Abnormal circulating pyruvate family amino acid concentration	0	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0010915	HP:0010915	Abnormal circulating pyruvate family amino acid concentration	0	LIG3 CL E G H	3980	6600	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy		1
HP:0010915	HP:0010915	Abnormal circulating pyruvate family amino acid concentration	0	LIPT2 CL E G H	387787	37216	OMIM:617668	Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities		2
HP:0010915	HP:0010915	Abnormal circulating pyruvate family amino acid concentration	0	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8		10
HP:0010915	HP:0010915	Abnormal circulating pyruvate family amino acid concentration	0	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0010915	HP:0010915	Abnormal circulating pyruvate family amino acid concentration	0	MIPEP CL E G H	4285	7104	OMIM:617228	Combined oxidative phosphorylation deficiency 31		7
HP:0010915	HP:0010915	Abnormal circulating pyruvate family amino acid concentration	0	MRPL3 CL E G H	11222	10379	OMIM:614582	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD9		13
HP:0010915	HP:0010915	Abnormal circulating pyruvate family amino acid concentration	0	MRPS14 CL E G H	63931	14049	OMIM:618378	Combined oxidative phosphorylation deficiency 38
HP:0010915	HP:0010915	Abnormal circulating pyruvate family amino acid concentration	0	MRPS2 CL E G H	51116	14495	OMIM:617950	Combined oxidative phosphorylation deficiency 36
HP:0010915	HP:0010915	Abnormal circulating pyruvate family amino acid concentration	0	MTO1 CL E G H	25821	19261	OMIM:614702	Combined oxidative phosphorylation deficiency 10		39
HP:0010915	HP:0010915	Abnormal circulating pyruvate family amino acid concentration	0	NAGS CL E G H	162417	17996	ORPHA:927	Hyperammonemia due to N-acetylglutamate synthase deficiency		36
HP:0010915	HP:0010915	Abnormal circulating pyruvate family amino acid concentration	0	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0010915	HP:0010915	Abnormal circulating pyruvate family amino acid concentration	0	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0010915	HP:0010915	Abnormal circulating pyruvate family amino acid concentration	0	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0010915	HP:0010915	Abnormal circulating pyruvate family amino acid concentration	0	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0010915	HP:0010915	Abnormal circulating pyruvate family amino acid concentration	0	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0010915	HP:0010915	Abnormal circulating pyruvate family amino acid concentration	0	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0010915	HP:0010915	Abnormal circulating pyruvate family amino acid concentration	0	NDUFA13 CL E G H	51079	17194	OMIM:618249	Mitochondrial complex I deficiency, nuclear type 28		3
HP:0010915	HP:0010915	Abnormal circulating pyruvate family amino acid concentration	0	NDUFB10 CL E G H	4716	7696	OMIM:619003	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35
HP:0010915	HP:0010915	Abnormal circulating pyruvate family amino acid concentration	0	NDUFC2 CL E G H	4718	7706	OMIM:619170	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36; MC1DN36
HP:0010915	HP:0010915	Abnormal circulating pyruvate family amino acid concentration	0	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1		27
HP:0010915	HP:0010915	Abnormal circulating pyruvate family amino acid concentration	0	NFS1 CL E G H	9054	15910	OMIM:619386	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD52		5
HP:0010915	HP:0010915	Abnormal circulating pyruvate family amino acid concentration	0	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation		32
HP:0010915	HP:0010915	Abnormal circulating pyruvate family amino acid concentration	0	PC CL E G H	5091	8636	OMIM:266150	Pyruvate carboxylase deficiency		118
HP:0010915	HP:0010915	Abnormal circulating pyruvate family amino acid concentration	0	PDHA1 CL E G H	5160	8806	OMIM:312170	Pyruvate dehydrogenase e1-alpha deficiency		88
HP:0010915	HP:0010915	Abnormal circulating pyruvate family amino acid concentration	0	PDHX CL E G H	8050	21350	OMIM:245349	Pyruvate dehydrogenase e3-binding protein deficiency		98
HP:0010915	HP:0010915	Abnormal circulating pyruvate family amino acid concentration	0	PDHX CL E G H	8050	21350	ORPHA:255182	Pyruvate dehydrogenase E3-binding protein deficiency	HP:0040282 - Frequent	98
HP:0010915	HP:0010915	Abnormal circulating pyruvate family amino acid concentration	0	PDP1 CL E G H	54704	9279	ORPHA:79246	Pyruvate dehydrogenase phosphatase deficiency		52
HP:0010915	HP:0010915	Abnormal circulating pyruvate family amino acid concentration	0	PNPLA8 CL E G H	50640	28900	OMIM:251950	Mitochondrial myopathy with lactic acidosis		3
HP:0010915	HP:0010915	Abnormal circulating pyruvate family amino acid concentration	0	POLG CL E G H	5428	9179	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy		464
HP:0010915	HP:0010915	Abnormal circulating pyruvate family amino acid concentration	0	RRM2B CL E G H	50484	17296	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy		125
HP:0010915	HP:0010915	Abnormal circulating pyruvate family amino acid concentration	0	SCO1 CL E G H	6341	10603	OMIM:619048	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN4		46
HP:0010915	HP:0010915	Abnormal circulating pyruvate family amino acid concentration	0	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency		82
HP:0010915	HP:0010915	Abnormal circulating pyruvate family amino acid concentration	0	SLC25A4 CL E G H	291	10990	OMIM:615418	Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)		68
HP:0010915	HP:0010915	Abnormal circulating pyruvate family amino acid concentration	0	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance		104
HP:0010915	HP:0010915	Abnormal circulating pyruvate family amino acid concentration	0	TARS2 CL E G H	80222	30740	OMIM:615918	Combined oxidative phosphorylation deficiency 21		28
HP:0010915	HP:0010915	Abnormal circulating pyruvate family amino acid concentration	0	TMEM126B CL E G H	55863	30883	OMIM:618250	Mitochondrial complex I deficiency, nuclear type 29		4
HP:0010915	HP:0010915	Abnormal circulating pyruvate family amino acid concentration	0	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2		63
HP:0010915	HP:0010915	Abnormal circulating pyruvate family amino acid concentration	0	TRMT10C CL E G H	54931	26022	OMIM:616974	Combined oxidative phosphorylation deficiency 30		3
HP:0010915	HP:0010915	Abnormal circulating pyruvate family amino acid concentration	0	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0010915	HP:0010915	Abnormal circulating pyruvate family amino acid concentration	0	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0010915	HP:0010915	Abnormal circulating pyruvate family amino acid concentration	0	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0010915	HP:0010915	Abnormal circulating pyruvate family amino acid concentration	0	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0010915	HP:0010915	Abnormal circulating pyruvate family amino acid concentration	0	TYMP CL E G H	1890	3148	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy		138
HP:0010915	HP:0010915	Abnormal circulating pyruvate family amino acid concentration	0	UQCRC2 CL E G H	7385	12586	OMIM:615160	Mitochondrial complex III deficiency, nuclear type 5		17
HP:0010915	HP:0010915	Abnormal circulating pyruvate family amino acid concentration	0	VARS2 CL E G H	57176	21642	OMIM:615917	Combined oxidative phosphorylation deficiency 20		56
HP:0010915	HP:0010916	Abnormal circulating alanine concentration	1	ALDH4A1 CL E G H	8659	406	ORPHA:79101	Hyperprolinemia type 2		74
HP:0010915	HP:0010916	Abnormal circulating alanine concentration	1	ATP5F1A CL E G H	498	823	OMIM:616045	Combined oxidative phosphorylation deficiency 22
HP:0010915	HP:0010916	Abnormal circulating alanine concentration	1	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0010915	HP:0010916	Abnormal circulating alanine concentration	1	CA5A CL E G H	763	1377	OMIM:615751	Hyperammonemia due to carbonic anhydrase VA deficiency		10
HP:0010915	HP:0010916	Abnormal circulating alanine concentration	1	COQ9 CL E G H	57017	25302	OMIM:614654	Coenzyme Q10 deficiency, primary, 5		44
HP:0010915	HP:0010916	Abnormal circulating alanine concentration	1	COX10 CL E G H	1352	2260	OMIM:619046	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3		82
HP:0010915	HP:0010916	Abnormal circulating alanine concentration	1	COX16 CL E G H	51241	20213	OMIM:619355	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0010915	HP:0010916	Abnormal circulating alanine concentration	1	COX5A CL E G H	9377	2267	OMIM:619064	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0010915	HP:0010916	Abnormal circulating alanine concentration	1	COX6B1 CL E G H	1340	2280	OMIM:619051	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7		10
HP:0010915	HP:0010916	Abnormal circulating alanine concentration	1	COX8A CL E G H	1351	2294	OMIM:619059	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15; MC4DN15		1
HP:0010915	HP:0010916	Abnormal circulating alanine concentration	1	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1		94
HP:0010915	HP:0010916	Abnormal circulating alanine concentration	1	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0010915	HP:0010916	Abnormal circulating alanine concentration	1	FBP1 CL E G H	2203	3606	ORPHA:348	Fructose-1,6-bisphosphatase deficiency		64
HP:0010915	HP:0010916	Abnormal circulating alanine concentration	1	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)		384
HP:0010915	HP:0010916	Abnormal circulating alanine concentration	1	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0010915	HP:0010916	Abnormal circulating alanine concentration	1	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0010915	HP:0010916	Abnormal circulating alanine concentration	1	LIG3 CL E G H	3980	6600	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy		1
HP:0010915	HP:0010916	Abnormal circulating alanine concentration	1	LIPT2 CL E G H	387787	37216	OMIM:617668	Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities		2
HP:0010915	HP:0010916	Abnormal circulating alanine concentration	1	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8		10
HP:0010915	HP:0010916	Abnormal circulating alanine concentration	1	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0010915	HP:0010916	Abnormal circulating alanine concentration	1	MIPEP CL E G H	4285	7104	OMIM:617228	Combined oxidative phosphorylation deficiency 31		7
HP:0010915	HP:0010916	Abnormal circulating alanine concentration	1	MRPL3 CL E G H	11222	10379	OMIM:614582	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD9		13
HP:0010915	HP:0010916	Abnormal circulating alanine concentration	1	MRPS14 CL E G H	63931	14049	OMIM:618378	Combined oxidative phosphorylation deficiency 38
HP:0010915	HP:0010916	Abnormal circulating alanine concentration	1	MRPS2 CL E G H	51116	14495	OMIM:617950	Combined oxidative phosphorylation deficiency 36
HP:0010915	HP:0010916	Abnormal circulating alanine concentration	1	MTO1 CL E G H	25821	19261	OMIM:614702	Combined oxidative phosphorylation deficiency 10		39
HP:0010915	HP:0010916	Abnormal circulating alanine concentration	1	NAGS CL E G H	162417	17996	ORPHA:927	Hyperammonemia due to N-acetylglutamate synthase deficiency		36
HP:0010915	HP:0010916	Abnormal circulating alanine concentration	1	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0010915	HP:0010916	Abnormal circulating alanine concentration	1	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0010915	HP:0010916	Abnormal circulating alanine concentration	1	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0010915	HP:0010916	Abnormal circulating alanine concentration	1	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0010915	HP:0010916	Abnormal circulating alanine concentration	1	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0010915	HP:0010916	Abnormal circulating alanine concentration	1	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0010915	HP:0010916	Abnormal circulating alanine concentration	1	NDUFA13 CL E G H	51079	17194	OMIM:618249	Mitochondrial complex I deficiency, nuclear type 28		3
HP:0010915	HP:0010916	Abnormal circulating alanine concentration	1	NDUFB10 CL E G H	4716	7696	OMIM:619003	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35
HP:0010915	HP:0010916	Abnormal circulating alanine concentration	1	NDUFC2 CL E G H	4718	7706	OMIM:619170	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36; MC1DN36
HP:0010915	HP:0010916	Abnormal circulating alanine concentration	1	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1		27
HP:0010915	HP:0010916	Abnormal circulating alanine concentration	1	NFS1 CL E G H	9054	15910	OMIM:619386	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD52		5
HP:0010915	HP:0010916	Abnormal circulating alanine concentration	1	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation		32
HP:0010915	HP:0010916	Abnormal circulating alanine concentration	1	PC CL E G H	5091	8636	OMIM:266150	Pyruvate carboxylase deficiency		118
HP:0010915	HP:0010916	Abnormal circulating alanine concentration	1	PDHA1 CL E G H	5160	8806	OMIM:312170	Pyruvate dehydrogenase e1-alpha deficiency		88
HP:0010915	HP:0010916	Abnormal circulating alanine concentration	1	PDHX CL E G H	8050	21350	OMIM:245349	Pyruvate dehydrogenase e3-binding protein deficiency		98
HP:0010915	HP:0010916	Abnormal circulating alanine concentration	1	PDP1 CL E G H	54704	9279	ORPHA:79246	Pyruvate dehydrogenase phosphatase deficiency		52
HP:0010915	HP:0010916	Abnormal circulating alanine concentration	1	PNPLA8 CL E G H	50640	28900	OMIM:251950	Mitochondrial myopathy with lactic acidosis		3
HP:0010915	HP:0010916	Abnormal circulating alanine concentration	1	POLG CL E G H	5428	9179	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy		464
HP:0010915	HP:0010916	Abnormal circulating alanine concentration	1	RRM2B CL E G H	50484	17296	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy		125
HP:0010915	HP:0010916	Abnormal circulating alanine concentration	1	SCO1 CL E G H	6341	10603	OMIM:619048	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN4		46
HP:0010915	HP:0010916	Abnormal circulating alanine concentration	1	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency	HP:0040282 - Frequent	82
HP:0010915	HP:0010916	Abnormal circulating alanine concentration	1	SLC25A4 CL E G H	291	10990	OMIM:615418	Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)		68
HP:0010915	HP:0010916	Abnormal circulating alanine concentration	1	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance		104
HP:0010915	HP:0010916	Abnormal circulating alanine concentration	1	TARS2 CL E G H	80222	30740	OMIM:615918	Combined oxidative phosphorylation deficiency 21		28
HP:0010915	HP:0010916	Abnormal circulating alanine concentration	1	TMEM126B CL E G H	55863	30883	OMIM:618250	Mitochondrial complex I deficiency, nuclear type 29		4
HP:0010915	HP:0010916	Abnormal circulating alanine concentration	1	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2		63
HP:0010915	HP:0010916	Abnormal circulating alanine concentration	1	TRMT10C CL E G H	54931	26022	OMIM:616974	Combined oxidative phosphorylation deficiency 30		3
HP:0010915	HP:0010916	Abnormal circulating alanine concentration	1	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0010915	HP:0010916	Abnormal circulating alanine concentration	1	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0010915	HP:0010916	Abnormal circulating alanine concentration	1	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0010915	HP:0010916	Abnormal circulating alanine concentration	1	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0010915	HP:0010916	Abnormal circulating alanine concentration	1	TYMP CL E G H	1890	3148	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy		138
HP:0010915	HP:0010916	Abnormal circulating alanine concentration	1	UQCRC2 CL E G H	7385	12586	OMIM:615160	Mitochondrial complex III deficiency, nuclear type 5		17
HP:0010915	HP:0010916	Abnormal circulating alanine concentration	1	VARS2 CL E G H	57176	21642	OMIM:615917	Combined oxidative phosphorylation deficiency 20		56
HP:0010915	HP:0500154	Hypoalaninemia	2	CL E G H
HP:0010915	HP:0003348	Hyperalaninemia	2	ALDH4A1 CL E G H	8659	406	ORPHA:79101	Hyperprolinemia type 2	HP:0040282 - Frequent	74
HP:0010915	HP:0003348	Hyperalaninemia	2	ATP5F1A CL E G H	498	823	OMIM:616045	Combined oxidative phosphorylation deficiency 22	.
HP:0010915	HP:0003348	Hyperalaninemia	2	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0010915	HP:0003348	Hyperalaninemia	2	CA5A CL E G H	763	1377	OMIM:615751	Hyperammonemia due to carbonic anhydrase VA deficiency	.	10
HP:0010915	HP:0003348	Hyperalaninemia	2	COQ9 CL E G H	57017	25302	OMIM:614654	Coenzyme Q10 deficiency, primary, 5	.	44
HP:0010915	HP:0003348	Hyperalaninemia	2	COX10 CL E G H	1352	2260	OMIM:619046	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3		82
HP:0010915	HP:0003348	Hyperalaninemia	2	COX16 CL E G H	51241	20213	OMIM:619355	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0010915	HP:0003348	Hyperalaninemia	2	COX5A CL E G H	9377	2267	OMIM:619064	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0010915	HP:0003348	Hyperalaninemia	2	COX6B1 CL E G H	1340	2280	OMIM:619051	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7		10
HP:0010915	HP:0003348	Hyperalaninemia	2	COX8A CL E G H	1351	2294	OMIM:619059	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15; MC4DN15		1
HP:0010915	HP:0003348	Hyperalaninemia	2	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1		94
HP:0010915	HP:0003348	Hyperalaninemia	2	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0010915	HP:0003348	Hyperalaninemia	2	FBP1 CL E G H	2203	3606	ORPHA:348	Fructose-1,6-bisphosphatase deficiency	HP:0040284 - Very rare	64
HP:0010915	HP:0003348	Hyperalaninemia	2	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	.	384
HP:0010915	HP:0003348	Hyperalaninemia	2	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0010915	HP:0003348	Hyperalaninemia	2	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0010915	HP:0003348	Hyperalaninemia	2	LIG3 CL E G H	3980	6600	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040282 - Frequent	1
HP:0010915	HP:0003348	Hyperalaninemia	2	LIPT2 CL E G H	387787	37216	OMIM:617668	Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities	.	2
HP:0010915	HP:0003348	Hyperalaninemia	2	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8		10
HP:0010915	HP:0003348	Hyperalaninemia	2	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0010915	HP:0003348	Hyperalaninemia	2	MIPEP CL E G H	4285	7104	OMIM:617228	Combined oxidative phosphorylation deficiency 31	.	7
HP:0010915	HP:0003348	Hyperalaninemia	2	MRPL3 CL E G H	11222	10379	OMIM:614582	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD9		13
HP:0010915	HP:0003348	Hyperalaninemia	2	MRPS14 CL E G H	63931	14049	OMIM:618378	Combined oxidative phosphorylation deficiency 38
HP:0010915	HP:0003348	Hyperalaninemia	2	MRPS2 CL E G H	51116	14495	OMIM:617950	Combined oxidative phosphorylation deficiency 36
HP:0010915	HP:0003348	Hyperalaninemia	2	MTO1 CL E G H	25821	19261	OMIM:614702	Combined oxidative phosphorylation deficiency 10	HP:0040283 - Occasional	39
HP:0010915	HP:0003348	Hyperalaninemia	2	NAGS CL E G H	162417	17996	ORPHA:927	Hyperammonemia due to N-acetylglutamate synthase deficiency	HP:0040283 - Occasional	36
HP:0010915	HP:0003348	Hyperalaninemia	2	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0010915	HP:0003348	Hyperalaninemia	2	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0010915	HP:0003348	Hyperalaninemia	2	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0010915	HP:0003348	Hyperalaninemia	2	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0010915	HP:0003348	Hyperalaninemia	2	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0010915	HP:0003348	Hyperalaninemia	2	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0010915	HP:0003348	Hyperalaninemia	2	NDUFA13 CL E G H	51079	17194	OMIM:618249	Mitochondrial complex I deficiency, nuclear type 28	.	3
HP:0010915	HP:0003348	Hyperalaninemia	2	NDUFB10 CL E G H	4716	7696	OMIM:619003	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35
HP:0010915	HP:0003348	Hyperalaninemia	2	NDUFC2 CL E G H	4718	7706	OMIM:619170	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36; MC1DN36
HP:0010915	HP:0003348	Hyperalaninemia	2	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1		27
HP:0010915	HP:0003348	Hyperalaninemia	2	NFS1 CL E G H	9054	15910	OMIM:619386	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD52		5
HP:0010915	HP:0003348	Hyperalaninemia	2	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation		32
HP:0010915	HP:0003348	Hyperalaninemia	2	PC CL E G H	5091	8636	OMIM:266150	Pyruvate carboxylase deficiency	.	118
HP:0010915	HP:0003348	Hyperalaninemia	2	PDHA1 CL E G H	5160	8806	OMIM:312170	Pyruvate dehydrogenase e1-alpha deficiency	.	88
HP:0010915	HP:0003348	Hyperalaninemia	2	PDHX CL E G H	8050	21350	OMIM:245349	Pyruvate dehydrogenase e3-binding protein deficiency	.	98
HP:0010915	HP:0003348	Hyperalaninemia	2	PDP1 CL E G H	54704	9279	ORPHA:79246	Pyruvate dehydrogenase phosphatase deficiency	HP:0040282 - Frequent	52
HP:0010915	HP:0003348	Hyperalaninemia	2	PNPLA8 CL E G H	50640	28900	OMIM:251950	Mitochondrial myopathy with lactic acidosis	.	3
HP:0010915	HP:0003348	Hyperalaninemia	2	POLG CL E G H	5428	9179	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040282 - Frequent	464
HP:0010915	HP:0003348	Hyperalaninemia	2	RRM2B CL E G H	50484	17296	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040282 - Frequent	125
HP:0010915	HP:0003348	Hyperalaninemia	2	SCO1 CL E G H	6341	10603	OMIM:619048	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN4		46
HP:0010915	HP:0003348	Hyperalaninemia	2	SLC25A4 CL E G H	291	10990	OMIM:615418	Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)		68
HP:0010915	HP:0003348	Hyperalaninemia	2	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance	HP:0040282 - Frequent	104
HP:0010915	HP:0003348	Hyperalaninemia	2	TARS2 CL E G H	80222	30740	OMIM:615918	Combined oxidative phosphorylation deficiency 21		28
HP:0010915	HP:0003348	Hyperalaninemia	2	TMEM126B CL E G H	55863	30883	OMIM:618250	Mitochondrial complex I deficiency, nuclear type 29	.	4
HP:0010915	HP:0003348	Hyperalaninemia	2	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2	.	63
HP:0010915	HP:0003348	Hyperalaninemia	2	TRMT10C CL E G H	54931	26022	OMIM:616974	Combined oxidative phosphorylation deficiency 30	.	3
HP:0010915	HP:0003348	Hyperalaninemia	2	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0010915	HP:0003348	Hyperalaninemia	2	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0010915	HP:0003348	Hyperalaninemia	2	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0010915	HP:0003348	Hyperalaninemia	2	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0010915	HP:0003348	Hyperalaninemia	2	TYMP CL E G H	1890	3148	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040282 - Frequent	138
HP:0010915	HP:0003348	Hyperalaninemia	2	UQCRC2 CL E G H	7385	12586	OMIM:615160	Mitochondrial complex III deficiency, nuclear type 5		17
HP:0010915	HP:0003348	Hyperalaninemia	2	VARS2 CL E G H	57176	21642	OMIM:615917	Combined oxidative phosphorylation deficiency 20		56