Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	HGMD variants	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0003287	HP:0003287	Abnormality of mitochondrial metabolism	0	AK2 CL E G H	204	33355				ORPHA	1	19	87	362	103020
HP:0003287	HP:0003287	Abnormality of mitochondrial metabolism	0	DNMT1 CL E G H	1786	314404				ORPHA	1	23	510	2976	126375
HP:0003287	HP:0003287	Abnormality of mitochondrial metabolism	0	IBA57 CL E G H	200205	615330	Multiple mitochondrial dysfunctions syndrome 3	615330	C3809165	OMIM	1	23	113	27302	615316
HP:0003287	HP:0003287	Abnormality of mitochondrial metabolism	0	MT-CO1 CL E G H	4512	550				ORPHA	1			7419	516030
HP:0003287	HP:0003287	Abnormality of mitochondrial metabolism	0	MT-CO2 CL E G H	4513	550				ORPHA	1			7421	516040
HP:0003287	HP:0003287	Abnormality of mitochondrial metabolism	0	MT-CO3 CL E G H	4514	550				ORPHA	1			7422	516050
HP:0003287	HP:0003287	Abnormality of mitochondrial metabolism	0	MT-ND1 CL E G H	4535	550				ORPHA	1			7455	516000
HP:0003287	HP:0003287	Abnormality of mitochondrial metabolism	0	MT-ND4 CL E G H	4538	550				ORPHA	1			7459	516003
HP:0003287	HP:0003287	Abnormality of mitochondrial metabolism	0	MT-ND5 CL E G H	4540	550				ORPHA	1			7461	516005
HP:0003287	HP:0003287	Abnormality of mitochondrial metabolism	0	MT-ND6 CL E G H	4541	550				ORPHA	1			7462	516006
HP:0003287	HP:0003287	Abnormality of mitochondrial metabolism	0	MT-TF CL E G H	4558	550				ORPHA	1			7481	590070
HP:0003287	HP:0003287	Abnormality of mitochondrial metabolism	0	MT-TH CL E G H	4564	550				ORPHA	1			7487	590040
HP:0003287	HP:0003287	Abnormality of mitochondrial metabolism	0	MT-TL1 CL E G H	4567	550				ORPHA	1			7490	590050
HP:0003287	HP:0003287	Abnormality of mitochondrial metabolism	0	MT-TQ CL E G H	4572	550				ORPHA	1			7495	590030
HP:0003287	HP:0003287	Abnormality of mitochondrial metabolism	0	MT-TS1 CL E G H	4574	550				ORPHA	1			7497	590080
HP:0003287	HP:0003287	Abnormality of mitochondrial metabolism	0	MT-TS2 CL E G H	4575	550				ORPHA	1			7498	590085
HP:0003287	HP:0003287	Abnormality of mitochondrial metabolism	0	MT-TW CL E G H	4578	550				ORPHA	1			7501	590095
HP:0003287	HP:0003287	Abnormality of mitochondrial metabolism	1	AK2 CL E G H	204	33355				ORPHA	1	19	87	362	103020
HP:0003287	HP:0003287	Abnormality of mitochondrial metabolism	1	DNMT1 CL E G H	1786	314404				ORPHA	1	23	510	2976	126375
HP:0003287	HP:0003287	Abnormality of mitochondrial metabolism	1	IBA57 CL E G H	200205	615330	Multiple mitochondrial dysfunctions syndrome 3	615330	C3809165	OMIM	1	23	113	27302	615316
HP:0003287	HP:0003287	Abnormality of mitochondrial metabolism	1	MT-CO1 CL E G H	4512	550				ORPHA	1			7419	516030
HP:0003287	HP:0003287	Abnormality of mitochondrial metabolism	1	MT-CO2 CL E G H	4513	550				ORPHA	1			7421	516040
HP:0003287	HP:0003287	Abnormality of mitochondrial metabolism	1	MT-CO3 CL E G H	4514	550				ORPHA	1			7422	516050
HP:0003287	HP:0003287	Abnormality of mitochondrial metabolism	1	MT-ND1 CL E G H	4535	550				ORPHA	1			7455	516000
HP:0003287	HP:0003287	Abnormality of mitochondrial metabolism	1	MT-ND4 CL E G H	4538	550				ORPHA	1			7459	516003
HP:0003287	HP:0003287	Abnormality of mitochondrial metabolism	1	MT-ND5 CL E G H	4540	550				ORPHA	1			7461	516005
HP:0003287	HP:0003287	Abnormality of mitochondrial metabolism	1	MT-ND6 CL E G H	4541	550				ORPHA	1			7462	516006
HP:0003287	HP:0003287	Abnormality of mitochondrial metabolism	1	MT-TF CL E G H	4558	550				ORPHA	1			7481	590070
HP:0003287	HP:0003287	Abnormality of mitochondrial metabolism	1	MT-TH CL E G H	4564	550				ORPHA	1			7487	590040
HP:0003287	HP:0003287	Abnormality of mitochondrial metabolism	1	MT-TL1 CL E G H	4567	550				ORPHA	1			7490	590050
HP:0003287	HP:0003287	Abnormality of mitochondrial metabolism	1	MT-TQ CL E G H	4572	550				ORPHA	1			7495	590030
HP:0003287	HP:0003287	Abnormality of mitochondrial metabolism	1	MT-TS1 CL E G H	4574	550				ORPHA	1			7497	590080
HP:0003287	HP:0003287	Abnormality of mitochondrial metabolism	1	MT-TS2 CL E G H	4575	550				ORPHA	1			7498	590085
HP:0003287	HP:0003287	Abnormality of mitochondrial metabolism	1	MT-TW CL E G H	4578	550				ORPHA	1			7501	590095
HP:0003287	HP:0003287	Abnormality of mitochondrial metabolism	2	AK2 CL E G H	204	33355				ORPHA	1	19	87	362	103020
HP:0003287	HP:0003287	Abnormality of mitochondrial metabolism	2	DNMT1 CL E G H	1786	314404				ORPHA	1	23	510	2976	126375
HP:0003287	HP:0003287	Abnormality of mitochondrial metabolism	2	IBA57 CL E G H	200205	615330	Multiple mitochondrial dysfunctions syndrome 3	615330	C3809165	OMIM	1	23	113	27302	615316
HP:0003287	HP:0003287	Abnormality of mitochondrial metabolism	2	MT-CO1 CL E G H	4512	550				ORPHA	1			7419	516030
HP:0003287	HP:0003287	Abnormality of mitochondrial metabolism	2	MT-CO2 CL E G H	4513	550				ORPHA	1			7421	516040
HP:0003287	HP:0003287	Abnormality of mitochondrial metabolism	2	MT-CO3 CL E G H	4514	550				ORPHA	1			7422	516050
HP:0003287	HP:0003287	Abnormality of mitochondrial metabolism	2	MT-ND1 CL E G H	4535	550				ORPHA	1			7455	516000
HP:0003287	HP:0003287	Abnormality of mitochondrial metabolism	2	MT-ND4 CL E G H	4538	550				ORPHA	1			7459	516003
HP:0003287	HP:0003287	Abnormality of mitochondrial metabolism	2	MT-ND5 CL E G H	4540	550				ORPHA	1			7461	516005
HP:0003287	HP:0003287	Abnormality of mitochondrial metabolism	2	MT-ND6 CL E G H	4541	550				ORPHA	1			7462	516006
HP:0003287	HP:0003287	Abnormality of mitochondrial metabolism	2	MT-TF CL E G H	4558	550				ORPHA	1			7481	590070
HP:0003287	HP:0003287	Abnormality of mitochondrial metabolism	2	MT-TH CL E G H	4564	550				ORPHA	1			7487	590040
HP:0003287	HP:0003287	Abnormality of mitochondrial metabolism	2	MT-TL1 CL E G H	4567	550				ORPHA	1			7490	590050
HP:0003287	HP:0003287	Abnormality of mitochondrial metabolism	2	MT-TQ CL E G H	4572	550				ORPHA	1			7495	590030
HP:0003287	HP:0003287	Abnormality of mitochondrial metabolism	2	MT-TS1 CL E G H	4574	550				ORPHA	1			7497	590080
HP:0003287	HP:0003287	Abnormality of mitochondrial metabolism	2	MT-TS2 CL E G H	4575	550				ORPHA	1			7498	590085
HP:0003287	HP:0003287	Abnormality of mitochondrial metabolism	2	MT-TW CL E G H	4578	550				ORPHA	1			7501	590095
HP:0003287	HP:0003287	Abnormality of mitochondrial metabolism	3	AK2 CL E G H	204	33355				ORPHA	1	19	87	362	103020
HP:0003287	HP:0003287	Abnormality of mitochondrial metabolism	3	DNMT1 CL E G H	1786	314404				ORPHA	1	23	510	2976	126375
HP:0003287	HP:0003287	Abnormality of mitochondrial metabolism	3	IBA57 CL E G H	200205	615330	Multiple mitochondrial dysfunctions syndrome 3	615330	C3809165	OMIM	1	23	113	27302	615316
HP:0003287	HP:0003287	Abnormality of mitochondrial metabolism	3	MT-CO1 CL E G H	4512	550				ORPHA	1			7419	516030
HP:0003287	HP:0003287	Abnormality of mitochondrial metabolism	3	MT-CO2 CL E G H	4513	550				ORPHA	1			7421	516040
HP:0003287	HP:0003287	Abnormality of mitochondrial metabolism	3	MT-CO3 CL E G H	4514	550				ORPHA	1			7422	516050
HP:0003287	HP:0003287	Abnormality of mitochondrial metabolism	3	MT-ND1 CL E G H	4535	550				ORPHA	1			7455	516000
HP:0003287	HP:0003287	Abnormality of mitochondrial metabolism	3	MT-ND4 CL E G H	4538	550				ORPHA	1			7459	516003
HP:0003287	HP:0003287	Abnormality of mitochondrial metabolism	3	MT-ND5 CL E G H	4540	550				ORPHA	1			7461	516005
HP:0003287	HP:0003287	Abnormality of mitochondrial metabolism	3	MT-ND6 CL E G H	4541	550				ORPHA	1			7462	516006
HP:0003287	HP:0003287	Abnormality of mitochondrial metabolism	3	MT-TF CL E G H	4558	550				ORPHA	1			7481	590070
HP:0003287	HP:0003287	Abnormality of mitochondrial metabolism	3	MT-TH CL E G H	4564	550				ORPHA	1			7487	590040
HP:0003287	HP:0003287	Abnormality of mitochondrial metabolism	3	MT-TL1 CL E G H	4567	550				ORPHA	1			7490	590050
HP:0003287	HP:0003287	Abnormality of mitochondrial metabolism	3	MT-TQ CL E G H	4572	550				ORPHA	1			7495	590030
HP:0003287	HP:0003287	Abnormality of mitochondrial metabolism	3	MT-TS1 CL E G H	4574	550				ORPHA	1			7497	590080
HP:0003287	HP:0003287	Abnormality of mitochondrial metabolism	3	MT-TS2 CL E G H	4575	550				ORPHA	1			7498	590085
HP:0003287	HP:0003287	Abnormality of mitochondrial metabolism	3	MT-TW CL E G H	4578	550				ORPHA	1			7501	590095
HPO disease - gene - phenotype less frequent non-typical associations: