Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0003535	HP:0003535	3-Methylglutaconic aciduria	0	AGK CL E G H	55750	212350	Cataract and cardiomyopathy	212350	C1859317	OMIM	1	347	21869	610345
HP:0003535	HP:0003535	3-Methylglutaconic aciduria	0	ATP5F1D CL E G H	513	618120	MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5	618120	CN253835	OMIM	1	122	837	603150
HP:0003535	HP:0003535	3-Methylglutaconic aciduria	0	ATP5F1E CL E G H	514	614053	Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 3	614053	C3279708	OMIM	1	44	838	606153
HP:0003535	HP:0003535	3-Methylglutaconic aciduria	0	ATPAF2 CL E G H	91647	604273	Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1	604273	C2700431	OMIM	1	281	18802	608918
HP:0003535	HP:0003535	3-Methylglutaconic aciduria	0	AUH CL E G H	549	67046				ORPHA	1	249	890	600529
HP:0003535	HP:0003535	3-Methylglutaconic aciduria	0	AUH CL E G H	549	250950	3-Methylglutaconic aciduria type 1	250950	C0342727	OMIM	1	249	890	600529
HP:0003535	HP:0003535	3-Methylglutaconic aciduria	0	DNAJC19 CL E G H	131118	66634				ORPHA	1	142	30528	608977
HP:0003535	HP:0003535	3-Methylglutaconic aciduria	0	HTRA2 CL E G H	27429	617248	3-methylglutaconic aciduria, type VIII	617248	C4310650	OMIM	1	244	14348	606441
HP:0003535	HP:0003535	3-Methylglutaconic aciduria	0	MICOS13 CL E G H	125988	67047				ORPHA	1	34	33702	616658
HP:0003535	HP:0003535	3-Methylglutaconic aciduria	0	OPA3 CL E G H	80207	67047				ORPHA	1	523	8142	606580
HP:0003535	HP:0003535	3-Methylglutaconic aciduria	0	OPA3 CL E G H	80207	258501	3-Methylglutaconic aciduria type 3	258501	C0574084	OMIM	1	523	8142	606580
HP:0003535	HP:0003535	3-Methylglutaconic aciduria	0	POLG CL E G H	5428	203700	Progressive sclerosing poliodystrophy	203700	C0205710	OMIM	1	2324	9179	174763
HP:0003535	HP:0003535	3-Methylglutaconic aciduria	0	SERAC1 CL E G H	84947	614739	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	614739	C3553597	OMIM	1	400	21061	614725
HP:0003535	HP:0003535	3-Methylglutaconic aciduria	0	TAZ CL E G H	6901	302060	3-Methylglutaconic aciduria type 2	302060	C0574083	OMIM	1		11577	300394
HP:0003535	HP:0003535	3-Methylglutaconic aciduria	0	TIMM50 CL E G H	92609	617698	3-METHYLGLUTACONIC ACIDURIA, TYPE IX	617698	C4540171	OMIM	1	357	23656	607381
HP:0003535	HP:0003535	3-Methylglutaconic aciduria	0	TMEM70 CL E G H	54968	1194				ORPHA	1	325	26050	612418
HP:0003535	HP:0003535	3-Methylglutaconic aciduria	0	TMEM70 CL E G H	54968	614052	Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2	614052	C3279699	OMIM	1	325	26050	612418
HP:0003535	HP:0003344	3-Methylglutaric aciduria	1	AGK CL E G H	55750	212350	Cataract and cardiomyopathy	212350	C1859317	OMIM	1	347	21869	610345
HP:0003535	HP:0003344	3-Methylglutaric aciduria	1	ATP5F1D CL E G H	513	618120	MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5	618120	CN253835	OMIM	1	122	837	603150
HP:0003535	HP:0003344	3-Methylglutaric aciduria	1	ATP5F1E CL E G H	514	614053	Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 3	614053	C3279708	OMIM	1	44	838	606153
HP:0003535	HP:0003344	3-Methylglutaric aciduria	1	ATPAF2 CL E G H	91647	604273	Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1	604273	C2700431	OMIM	1	281	18802	608918
HP:0003535	HP:0003344	3-Methylglutaric aciduria	1	AUH CL E G H	549	67046				ORPHA	1	249	890	600529
HP:0003535	HP:0003344	3-Methylglutaric aciduria	1	AUH CL E G H	549	250950	3-Methylglutaconic aciduria type 1	250950	C0342727	OMIM	1	249	890	600529
HP:0003535	HP:0003344	3-Methylglutaric aciduria	1	DNAJC19 CL E G H	131118	66634				ORPHA	1	142	30528	608977
HP:0003535	HP:0003344	3-Methylglutaric aciduria	1	HTRA2 CL E G H	27429	617248	3-methylglutaconic aciduria, type VIII	617248	C4310650	OMIM	1	244	14348	606441
HP:0003535	HP:0003344	3-Methylglutaric aciduria	1	MICOS13 CL E G H	125988	67047				ORPHA	1	34	33702	616658
HP:0003535	HP:0003344	3-Methylglutaric aciduria	1	OPA3 CL E G H	80207	67047				ORPHA	1	523	8142	606580
HP:0003535	HP:0003344	3-Methylglutaric aciduria	1	OPA3 CL E G H	80207	258501	3-Methylglutaconic aciduria type 3	258501	C0574084	OMIM	1	523	8142	606580
HP:0003535	HP:0003344	3-Methylglutaric aciduria	1	POLG CL E G H	5428	203700	Progressive sclerosing poliodystrophy	203700	C0205710	OMIM	1	2324	9179	174763
HP:0003535	HP:0003344	3-Methylglutaric aciduria	1	SERAC1 CL E G H	84947	614739	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	614739	C3553597	OMIM	1	400	21061	614725
HP:0003535	HP:0003344	3-Methylglutaric aciduria	1	TAZ CL E G H	6901	302060	3-Methylglutaconic aciduria type 2	302060	C0574083	OMIM	1		11577	300394
HP:0003535	HP:0003344	3-Methylglutaric aciduria	1	TIMM50 CL E G H	92609	617698	3-METHYLGLUTACONIC ACIDURIA, TYPE IX	617698	C4540171	OMIM	1	357	23656	607381
HP:0003535	HP:0003344	3-Methylglutaric aciduria	1	TMEM70 CL E G H	54968	1194				ORPHA	1	325	26050	612418
HP:0003535	HP:0003344	3-Methylglutaric aciduria	1	TMEM70 CL E G H	54968	614052	Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2	614052	C3279699	OMIM	1	325	26050	612418
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003535	HP:0003535	3-Methylglutaconic aciduria	0	ATAD3A CL E G H	55210	496790				ORPHA	0	399	25567	612316
HP:0003535	HP:0003344	3-Methylglutaric aciduria	1	ATAD3A CL E G H	55210	496790				ORPHA	0	399	25567	612316