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:0200125	HP:0200125	Mitochondrial respiratory chain defects	0	ATP6 CL E G H	4508	7414	ORPHA:104	Leber hereditary optic neuropathy	HP:0040281 - Very frequent
HP:0200125	HP:0200125	Mitochondrial respiratory chain defects	0	CAMKMT CL E G H	79823	26276	ORPHA:163693	2p21 microdeletion syndrome	HP:0040281 - Very frequent	1
HP:0200125	HP:0200125	Mitochondrial respiratory chain defects	0	COX1 CL E G H	4512	7419	ORPHA:104	Leber hereditary optic neuropathy	HP:0040281 - Very frequent
HP:0200125	HP:0200125	Mitochondrial respiratory chain defects	0	COX3 CL E G H	4514	7422	ORPHA:104	Leber hereditary optic neuropathy	HP:0040281 - Very frequent
HP:0200125	HP:0200125	Mitochondrial respiratory chain defects	0	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis	HP:0040283 - Occasional	114
HP:0200125	HP:0200125	Mitochondrial respiratory chain defects	0	CYTB CL E G H	4519	7427	ORPHA:104	Leber hereditary optic neuropathy	HP:0040281 - Very frequent
HP:0200125	HP:0200125	Mitochondrial respiratory chain defects	0	DNAJC30 CL E G H	84277	16410	ORPHA:104	Leber hereditary optic neuropathy	HP:0040281 - Very frequent
HP:0200125	HP:0200125	Mitochondrial respiratory chain defects	0	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	.	384
HP:0200125	HP:0200125	Mitochondrial respiratory chain defects	0	ND1 CL E G H	4535	7455	ORPHA:104	Leber hereditary optic neuropathy	HP:0040281 - Very frequent
HP:0200125	HP:0200125	Mitochondrial respiratory chain defects	0	ND2 CL E G H	4536	7456	ORPHA:104	Leber hereditary optic neuropathy	HP:0040281 - Very frequent
HP:0200125	HP:0200125	Mitochondrial respiratory chain defects	0	ND4 CL E G H	4538	7459	ORPHA:104	Leber hereditary optic neuropathy	HP:0040281 - Very frequent
HP:0200125	HP:0200125	Mitochondrial respiratory chain defects	0	ND4L CL E G H	4539	7460	ORPHA:104	Leber hereditary optic neuropathy	HP:0040281 - Very frequent
HP:0200125	HP:0200125	Mitochondrial respiratory chain defects	0	ND5 CL E G H	4540	7461	ORPHA:104	Leber hereditary optic neuropathy	HP:0040281 - Very frequent
HP:0200125	HP:0200125	Mitochondrial respiratory chain defects	0	ND6 CL E G H	4541	7462	ORPHA:104	Leber hereditary optic neuropathy	HP:0040281 - Very frequent
HP:0200125	HP:0200125	Mitochondrial respiratory chain defects	0	NDUFS2 CL E G H	4720	7708	ORPHA:104	Leber hereditary optic neuropathy	HP:0040281 - Very frequent	65
HP:0200125	HP:0200125	Mitochondrial respiratory chain defects	0	PNPT1 CL E G H	87178	23166	ORPHA:319514	Combined oxidative phosphorylation defect type 13	HP:0040281 - Very frequent	60
HP:0200125	HP:0200125	Mitochondrial respiratory chain defects	0	PPM1B CL E G H	5495	9276	ORPHA:163693	2p21 microdeletion syndrome	HP:0040281 - Very frequent
HP:0200125	HP:0200125	Mitochondrial respiratory chain defects	0	PREPL CL E G H	9581	30228	ORPHA:163693	2p21 microdeletion syndrome	HP:0040281 - Very frequent	7
HP:0200125	HP:0200125	Mitochondrial respiratory chain defects	0	SLC3A1 CL E G H	6519	11025	ORPHA:163693	2p21 microdeletion syndrome	HP:0040281 - Very frequent	55
HP:0200125	HP:0200125	Mitochondrial respiratory chain defects	0	TRMU CL E G H	55687	25481	OMIM:613070	Liver failure, infantile, transient	.	101