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:0002578	HP:0002578	Gastroparesis	0	ATP7A CL E G H	538	198				ORPHA	1	1751	869	300011
HP:0002578	HP:0002578	Gastroparesis	0	POLG CL E G H	5428	157640	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1	157640	C1834846	OMIM	1	2324	9179	174763
HP:0002578	HP:0002578	Gastroparesis	0	POLG CL E G H	5428	603041	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	603041	C0872218	OMIM	1	2324	9179	174763
HP:0002578	HP:0002578	Gastroparesis	0	POLG CL E G H	5428	607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	607459	C1843851	OMIM	1	2324	9179	174763
HP:0002578	HP:0002578	Gastroparesis	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:0002578	HP:0002578	Gastroparesis	0	TWNK CL E G H	56652	607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	607459	C1843851	OMIM	1	450	1160	606075
HP:0002578	HP:0002578	Gastroparesis	0	TYMP CL E G H	1890	603041	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	603041	C0872218	OMIM	1	895	3148	131222
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002578	HP:0002578	Gastroparesis	0	MT-CO1 CL E G H	4512	550				ORPHA	0		7419	516030
HP:0002578	HP:0002578	Gastroparesis	0	MT-CO2 CL E G H	4513	550				ORPHA	0		7421	516040
HP:0002578	HP:0002578	Gastroparesis	0	MT-CO3 CL E G H	4514	550				ORPHA	0		7422	516050
HP:0002578	HP:0002578	Gastroparesis	0	MT-ND1 CL E G H	4535	550				ORPHA	0		7455	516000
HP:0002578	HP:0002578	Gastroparesis	0	MT-ND4 CL E G H	4538	550				ORPHA	0		7459	516003
HP:0002578	HP:0002578	Gastroparesis	0	MT-ND5 CL E G H	4540	550				ORPHA	0		7461	516005
HP:0002578	HP:0002578	Gastroparesis	0	MT-ND6 CL E G H	4541	550				ORPHA	0		7462	516006
HP:0002578	HP:0002578	Gastroparesis	0	MT-TF CL E G H	4558	550				ORPHA	0		7481	590070
HP:0002578	HP:0002578	Gastroparesis	0	MT-TH CL E G H	4564	550				ORPHA	0		7487	590040
HP:0002578	HP:0002578	Gastroparesis	0	MT-TL1 CL E G H	4567	550				ORPHA	0		7490	590050
HP:0002578	HP:0002578	Gastroparesis	0	MT-TQ CL E G H	4572	550				ORPHA	0		7495	590030
HP:0002578	HP:0002578	Gastroparesis	0	MT-TS1 CL E G H	4574	550				ORPHA	0		7497	590080
HP:0002578	HP:0002578	Gastroparesis	0	MT-TS2 CL E G H	4575	550				ORPHA	0		7498	590085
HP:0002578	HP:0002578	Gastroparesis	0	MT-TW CL E G H	4578	550				ORPHA	0		7501	590095
HP:0002578	HP:0002578	Gastroparesis	0	POLG CL E G H	5428	254892				ORPHA	0	2324	9179	174763
HP:0002578	HP:0002578	Gastroparesis	0	POLG CL E G H	5428	70595				ORPHA	0	2324	9179	174763
HP:0002578	HP:0002578	Gastroparesis	0	POLG2 CL E G H	11232	254892				ORPHA	0	357	9180	604983
HP:0002578	HP:0002578	Gastroparesis	0	POLG2 CL E G H	11232	610131	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4	610131	C1864668	OMIM	0	357	9180	604983
HP:0002578	HP:0002578	Gastroparesis	0	RRM2B CL E G H	50484	254892				ORPHA	0	354	17296	604712
HP:0002578	HP:0002578	Gastroparesis	0	SLC25A4 CL E G H	291	254892				ORPHA	0	333	10990	103220
HP:0002578	HP:0002578	Gastroparesis	0	SON CL E G H	6651	500150				ORPHA	0	1031	11183	182465
HP:0002578	HP:0002578	Gastroparesis	0	TWNK CL E G H	56652	254892				ORPHA	0	450	1160	606075
HP:0002578	HP:0002578	Gastroparesis	0	TWNK CL E G H	56652	70595				ORPHA	0	450	1160	606075