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:0012103	HP:0012103	Abnormality of the mitochondrion	0	GNE CL E G H	10020	3166	Ladda Zonana Ramer syndrome			ORPHA	1	222	392	23657	603824
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	KCNJ10 CL E G H	3766	199343				ORPHA	1	33	170	6256	602208
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	PEX5 CL E G H	5830	214110	Peroxisome biogenesis disorder 2a (zellweger)	214110	C1859228	OMIM	1	14	196	9719	600414
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	POLG CL E G H	5428	254892				ORPHA	1	300	1015	9179	174763
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	POLG CL E G H	5428	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	300	1015	9179	174763
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	POLG2 CL E G H	11232	254892				ORPHA	1	14	81	9180	604983
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	RRM2B CL E G H	50484	254892				ORPHA	1	43	181	17296	604712
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	RRM2B CL E G H	50484	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	43	181	17296	604712
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	SLC25A3 CL E G H	5250	91130				ORPHA	1	5	60	10989	600370
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	SLC25A4 CL E G H	291	254892				ORPHA	1	17	189	10990	103220
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	TWNK CL E G H	56652	254892				ORPHA	1	83	148	1160	606075
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	TYMP CL E G H	1890	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	95	294	3148	131222
HP:0012103	HP:0012103	Abnormality of the mitochondrion	1	GNE CL E G H	10020	3166	Ladda Zonana Ramer syndrome			ORPHA	1	222	392	23657	603824
HP:0012103	HP:0012103	Abnormality of the mitochondrion	1	KCNJ10 CL E G H	3766	199343				ORPHA	1	33	170	6256	602208
HP:0012103	HP:0012103	Abnormality of the mitochondrion	1	PEX5 CL E G H	5830	214110	Peroxisome biogenesis disorder 2a (zellweger)	214110	C1859228	OMIM	1	14	196	9719	600414
HP:0012103	HP:0012103	Abnormality of the mitochondrion	1	POLG CL E G H	5428	254892				ORPHA	1	300	1015	9179	174763
HP:0012103	HP:0012103	Abnormality of the mitochondrion	1	POLG CL E G H	5428	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	300	1015	9179	174763
HP:0012103	HP:0012103	Abnormality of the mitochondrion	1	POLG2 CL E G H	11232	254892				ORPHA	1	14	81	9180	604983
HP:0012103	HP:0012103	Abnormality of the mitochondrion	1	RRM2B CL E G H	50484	254892				ORPHA	1	43	181	17296	604712
HP:0012103	HP:0012103	Abnormality of the mitochondrion	1	RRM2B CL E G H	50484	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	43	181	17296	604712
HP:0012103	HP:0012103	Abnormality of the mitochondrion	1	SLC25A3 CL E G H	5250	91130				ORPHA	1	5	60	10989	600370
HP:0012103	HP:0012103	Abnormality of the mitochondrion	1	SLC25A4 CL E G H	291	254892				ORPHA	1	17	189	10990	103220
HP:0012103	HP:0012103	Abnormality of the mitochondrion	1	TWNK CL E G H	56652	254892				ORPHA	1	83	148	1160	606075
HP:0012103	HP:0012103	Abnormality of the mitochondrion	1	TYMP CL E G H	1890	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	95	294	3148	131222
HP:0012103	HP:0012103	Abnormality of the mitochondrion	2	GNE CL E G H	10020	3166	Ladda Zonana Ramer syndrome			ORPHA	1	222	392	23657	603824
HP:0012103	HP:0012103	Abnormality of the mitochondrion	2	KCNJ10 CL E G H	3766	199343				ORPHA	1	33	170	6256	602208
HP:0012103	HP:0012103	Abnormality of the mitochondrion	2	PEX5 CL E G H	5830	214110	Peroxisome biogenesis disorder 2a (zellweger)	214110	C1859228	OMIM	1	14	196	9719	600414
HP:0012103	HP:0012103	Abnormality of the mitochondrion	2	POLG CL E G H	5428	254892				ORPHA	1	300	1015	9179	174763
HP:0012103	HP:0012103	Abnormality of the mitochondrion	2	POLG CL E G H	5428	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	300	1015	9179	174763
HP:0012103	HP:0012103	Abnormality of the mitochondrion	2	POLG2 CL E G H	11232	254892				ORPHA	1	14	81	9180	604983
HP:0012103	HP:0012103	Abnormality of the mitochondrion	2	RRM2B CL E G H	50484	254892				ORPHA	1	43	181	17296	604712
HP:0012103	HP:0012103	Abnormality of the mitochondrion	2	RRM2B CL E G H	50484	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	43	181	17296	604712
HP:0012103	HP:0012103	Abnormality of the mitochondrion	2	SLC25A3 CL E G H	5250	91130				ORPHA	1	5	60	10989	600370
HP:0012103	HP:0012103	Abnormality of the mitochondrion	2	SLC25A4 CL E G H	291	254892				ORPHA	1	17	189	10990	103220
HP:0012103	HP:0012103	Abnormality of the mitochondrion	2	TWNK CL E G H	56652	254892				ORPHA	1	83	148	1160	606075
HP:0012103	HP:0012103	Abnormality of the mitochondrion	2	TYMP CL E G H	1890	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	95	294	3148	131222
HP:0012103	HP:0012103	Abnormality of the mitochondrion	3	GNE CL E G H	10020	3166	Ladda Zonana Ramer syndrome			ORPHA	1	222	392	23657	603824
HP:0012103	HP:0012103	Abnormality of the mitochondrion	3	KCNJ10 CL E G H	3766	199343				ORPHA	1	33	170	6256	602208
HP:0012103	HP:0012103	Abnormality of the mitochondrion	3	PEX5 CL E G H	5830	214110	Peroxisome biogenesis disorder 2a (zellweger)	214110	C1859228	OMIM	1	14	196	9719	600414
HP:0012103	HP:0012103	Abnormality of the mitochondrion	3	POLG CL E G H	5428	254892				ORPHA	1	300	1015	9179	174763
HP:0012103	HP:0012103	Abnormality of the mitochondrion	3	POLG CL E G H	5428	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	300	1015	9179	174763
HP:0012103	HP:0012103	Abnormality of the mitochondrion	3	POLG2 CL E G H	11232	254892				ORPHA	1	14	81	9180	604983
HP:0012103	HP:0012103	Abnormality of the mitochondrion	3	RRM2B CL E G H	50484	254892				ORPHA	1	43	181	17296	604712
HP:0012103	HP:0012103	Abnormality of the mitochondrion	3	RRM2B CL E G H	50484	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	43	181	17296	604712
HP:0012103	HP:0012103	Abnormality of the mitochondrion	3	SLC25A3 CL E G H	5250	91130				ORPHA	1	5	60	10989	600370
HP:0012103	HP:0012103	Abnormality of the mitochondrion	3	SLC25A4 CL E G H	291	254892				ORPHA	1	17	189	10990	103220
HP:0012103	HP:0012103	Abnormality of the mitochondrion	3	TWNK CL E G H	56652	254892				ORPHA	1	83	148	1160	606075
HP:0012103	HP:0012103	Abnormality of the mitochondrion	3	TYMP CL E G H	1890	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	95	294	3148	131222
HP:0012103	HP:0012103	Abnormality of the mitochondrion	4	GNE CL E G H	10020	3166	Ladda Zonana Ramer syndrome			ORPHA	1	222	392	23657	603824
HP:0012103	HP:0012103	Abnormality of the mitochondrion	4	KCNJ10 CL E G H	3766	199343				ORPHA	1	33	170	6256	602208
HP:0012103	HP:0012103	Abnormality of the mitochondrion	4	PEX5 CL E G H	5830	214110	Peroxisome biogenesis disorder 2a (zellweger)	214110	C1859228	OMIM	1	14	196	9719	600414
HP:0012103	HP:0012103	Abnormality of the mitochondrion	4	POLG CL E G H	5428	254892				ORPHA	1	300	1015	9179	174763
HP:0012103	HP:0012103	Abnormality of the mitochondrion	4	POLG CL E G H	5428	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	300	1015	9179	174763
HP:0012103	HP:0012103	Abnormality of the mitochondrion	4	POLG2 CL E G H	11232	254892				ORPHA	1	14	81	9180	604983
HP:0012103	HP:0012103	Abnormality of the mitochondrion	4	RRM2B CL E G H	50484	254892				ORPHA	1	43	181	17296	604712
HP:0012103	HP:0012103	Abnormality of the mitochondrion	4	RRM2B CL E G H	50484	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	43	181	17296	604712
HP:0012103	HP:0012103	Abnormality of the mitochondrion	4	SLC25A3 CL E G H	5250	91130				ORPHA	1	5	60	10989	600370
HP:0012103	HP:0012103	Abnormality of the mitochondrion	4	SLC25A4 CL E G H	291	254892				ORPHA	1	17	189	10990	103220
HP:0012103	HP:0012103	Abnormality of the mitochondrion	4	TWNK CL E G H	56652	254892				ORPHA	1	83	148	1160	606075
HP:0012103	HP:0012103	Abnormality of the mitochondrion	4	TYMP CL E G H	1890	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	95	294	3148	131222
HPO disease - gene - phenotype less frequent non-typical associations: