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:0011965	HP:0011965	Abnormal circulating citrulline concentration	0	AASS CL E G H	10157	17366	ORPHA:3124	Saccharopinuria		15
HP:0011965	HP:0011965	Abnormal circulating citrulline concentration	0	ASS1 CL E G H	445	758	OMIM:215700	Citrullinemia, classic		119
HP:0011965	HP:0011965	Abnormal circulating citrulline concentration	0	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0011965	HP:0011965	Abnormal circulating citrulline concentration	0	CPS1 CL E G H	1373	2323	OMIM:237300	Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to		124
HP:0011965	HP:0011965	Abnormal circulating citrulline concentration	0	MRM2 CL E G H	29960	16352	OMIM:618567	MITOCHONDRIAL DNA DEPLETION SYNDROME 17; MTDPS17
HP:0011965	HP:0011965	Abnormal circulating citrulline concentration	0	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0011965	HP:0011965	Abnormal circulating citrulline concentration	0	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0011965	HP:0011965	Abnormal circulating citrulline concentration	0	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0011965	HP:0011965	Abnormal circulating citrulline concentration	0	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0011965	HP:0011965	Abnormal circulating citrulline concentration	0	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0011965	HP:0011965	Abnormal circulating citrulline concentration	0	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0011965	HP:0011965	Abnormal circulating citrulline concentration	0	OTC CL E G H	5009	8512	OMIM:311250	Ornithine transcarbamylase deficiency, hyperammonemia due to		369
HP:0011965	HP:0011965	Abnormal circulating citrulline concentration	0	PCK1 CL E G H	5105	8724	OMIM:261680	Phosphoenolpyruvate carboxykinase deficiency, cytosolic		53
HP:0011965	HP:0011965	Abnormal circulating citrulline concentration	0	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II		82
HP:0011965	HP:0011965	Abnormal circulating citrulline concentration	0	SLC25A13 CL E G H	10165	10983	OMIM:603471	Citrullinemia, type II, adult-onset		82
HP:0011965	HP:0011965	Abnormal circulating citrulline concentration	0	SLC25A13 CL E G H	10165	10983	OMIM:605814	Citrullinemia, type II, neonatal-onset		82
HP:0011965	HP:0011965	Abnormal circulating citrulline concentration	0	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency		82
HP:0011965	HP:0011965	Abnormal circulating citrulline concentration	0	SLC25A15 CL E G H	10166	10985	ORPHA:415	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	HP:0040281 - Very frequent	88
HP:0011965	HP:0011965	Abnormal circulating citrulline concentration	0	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance		104
HP:0011965	HP:0011965	Abnormal circulating citrulline concentration	0	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0011965	HP:0011965	Abnormal circulating citrulline concentration	0	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0011965	HP:0011965	Abnormal circulating citrulline concentration	0	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0011965	HP:0011965	Abnormal circulating citrulline concentration	0	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0011965	HP:0011966	Elevated plasma citrulline	1	AASS CL E G H	10157	17366	ORPHA:3124	Saccharopinuria	HP:0040283 - Occasional	15
HP:0011965	HP:0011966	Elevated plasma citrulline	1	ASS1 CL E G H	445	758	OMIM:215700	Citrullinemia, classic		119
HP:0011965	HP:0003572	Low plasma citrulline	1	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040284 - Very rare
HP:0011965	HP:0003572	Low plasma citrulline	1	CPS1 CL E G H	1373	2323	OMIM:237300	Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to	.	124
HP:0011965	HP:0003572	Low plasma citrulline	1	MRM2 CL E G H	29960	16352	OMIM:618567	MITOCHONDRIAL DNA DEPLETION SYNDROME 17; MTDPS17
HP:0011965	HP:0003572	Low plasma citrulline	1	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040284 - Very rare
HP:0011965	HP:0003572	Low plasma citrulline	1	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040284 - Very rare
HP:0011965	HP:0003572	Low plasma citrulline	1	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040284 - Very rare
HP:0011965	HP:0003572	Low plasma citrulline	1	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040284 - Very rare
HP:0011965	HP:0003572	Low plasma citrulline	1	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040284 - Very rare
HP:0011965	HP:0003572	Low plasma citrulline	1	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040284 - Very rare
HP:0011965	HP:0003572	Low plasma citrulline	1	OTC CL E G H	5009	8512	OMIM:311250	Ornithine transcarbamylase deficiency, hyperammonemia due to	.	369
HP:0011965	HP:0003572	Low plasma citrulline	1	PCK1 CL E G H	5105	8724	OMIM:261680	Phosphoenolpyruvate carboxykinase deficiency, cytosolic	.	53
HP:0011965	HP:0011966	Elevated plasma citrulline	1	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II	HP:0040281 - Very frequent	82
HP:0011965	HP:0011966	Elevated plasma citrulline	1	SLC25A13 CL E G H	10165	10983	OMIM:603471	Citrullinemia, type II, adult-onset		82
HP:0011965	HP:0011966	Elevated plasma citrulline	1	SLC25A13 CL E G H	10165	10983	OMIM:605814	Citrullinemia, type II, neonatal-onset	.	82
HP:0011965	HP:0011966	Elevated plasma citrulline	1	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency	HP:0040281 - Very frequent	82
HP:0011965	HP:0011966	Elevated plasma citrulline	1	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance	HP:0040282 - Frequent	104
HP:0011965	HP:0003572	Low plasma citrulline	1	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040284 - Very rare
HP:0011965	HP:0003572	Low plasma citrulline	1	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040284 - Very rare
HP:0011965	HP:0003572	Low plasma citrulline	1	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040284 - Very rare
HP:0011965	HP:0003572	Low plasma citrulline	1	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040284 - Very rare