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:0002305	HP:0002305	Athetosis	0	ACO2 CL E G H	50	614559	Infantile cerebellar-retinal degeneration	614559	C3281192	OMIM	1	681	118	100850
HP:0002305	HP:0002305	Athetosis	0	ALDH18A1 CL E G H	5832	219150	Cutis laxa-corneal clouding-oligophrenia syndrome	219150	C0268354	OMIM	1	586	9722	138250
HP:0002305	HP:0002305	Athetosis	0	AUH CL E G H	549	250950	3-Methylglutaconic aciduria type 1	250950	C0342727	OMIM	1	249	890	600529
HP:0002305	HP:0002305	Athetosis	0	CACNA1A CL E G H	773	617106	Epileptic encephalopathy, early infantile, 42	617106	C4310716	OMIM	1	3248	1388	601011
HP:0002305	HP:0002305	Athetosis	0	CACNA1D CL E G H	776	369929				ORPHA	1	1548	1391	114206
HP:0002305	HP:0002305	Athetosis	0	CUX2 CL E G H	23316	618141	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 67	618141		OMIM	1	227	19347	610648
HP:0002305	HP:0002305	Athetosis	0	EPRS CL E G H	2058	617951	LEUKODYSTROPHY, HYPOMYELINATING, 15	617951	CN244566	OMIM	1		3418	138295
HP:0002305	HP:0002305	Athetosis	0	FOXG1 CL E G H	2290	613454	Rett syndrome, congenital variant	613454	C3150705	OMIM	1	725	3811	164874
HP:0002305	HP:0002305	Athetosis	0	FOXRED1 CL E G H	55572	618241	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19	618241		OMIM	1	323	26927	613622
HP:0002305	HP:0002305	Athetosis	0	GNAO1 CL E G H	2775	617493	Neurodevelopmental disorder with involuntary movements	617493	C4479569	OMIM	1	429	4389	139311
HP:0002305	HP:0002305	Athetosis	0	KCNA1 CL E G H	3736	98809	Paroxysmal kinesigenic dyskinesia		CN207123	ORPHA	1	575	6218	176260
HP:0002305	HP:0002305	Athetosis	0	KIF5A CL E G H	3798	617235	Myoclonus, intractable, neonatal	617235	C4310658	OMIM	1	1014	6323	602821
HP:0002305	HP:0002305	Athetosis	0	NDE1 CL E G H	54820	605013	Microhydranencephaly	605013	C1857977	OMIM	1	1623	17619	609449
HP:0002305	HP:0002305	Athetosis	0	NGLY1 CL E G H	55768	615273	Congenital disorder of deglycosylation	615273	C3808991	OMIM	1	656	17646	610661
HP:0002305	HP:0002305	Athetosis	0	PDGFB CL E G H	5155	213600	Idiopathic basal ganglia calcification 1	213600	C0393590	OMIM	1	151	8800	190040
HP:0002305	HP:0002305	Athetosis	0	PDGFB CL E G H	5155	615483	Idiopathic basal ganglia calcification 5	615483	C3809645	OMIM	1	151	8800	190040
HP:0002305	HP:0002305	Athetosis	0	PDGFRB CL E G H	5159	213600	Idiopathic basal ganglia calcification 1	213600	C0393590	OMIM	1	531	8804	173410
HP:0002305	HP:0002305	Athetosis	0	PIGV CL E G H	55650	239300	Hyperphosphatasia with mental retardation syndrome 1	239300	CN030519	OMIM	1	304	26031	610274
HP:0002305	HP:0002305	Athetosis	0	PRRT2 CL E G H	112476	98809	Paroxysmal kinesigenic dyskinesia		CN207123	ORPHA	1	799	30500	614386
HP:0002305	HP:0002305	Athetosis	0	SLC16A2 CL E G H	6567	300523	Allan-Herndon-Dudley syndrome	300523	C0795889	OMIM	1	427	10923	300095
HP:0002305	HP:0002305	Athetosis	0	SLC17A5 CL E G H	26503	604369	Salla disease	604369	C1096903	OMIM	1	520	10933	604322
HP:0002305	HP:0002305	Athetosis	0	SLC20A2 CL E G H	6575	213600	Idiopathic basal ganglia calcification 1	213600	C0393590	OMIM	1	337	10947	158378
HP:0002305	HP:0002305	Athetosis	0	SLC46A1 CL E G H	113235	229050	Congenital defect of folate absorption	229050	C0342705	OMIM	1	329	30521	611672
HP:0002305	HP:0002305	Athetosis	0	SLC6A8 CL E G H	6535	52503				ORPHA	1	1062	11055	300036
HP:0002305	HP:0002305	Athetosis	0	SMPD1 CL E G H	6609	257200	Niemann-Pick disease, type A	257200	C0268242	OMIM	1	864	11120	607608
HP:0002305	HP:0002305	Athetosis	0	SUCLA2 CL E G H	8803	612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)	612073	C2749864	OMIM	1	413	11448	603921
HP:0002305	HP:0002305	Athetosis	0	TRAPPC11 CL E G H	60684	615356	Limb-girdle muscular dystrophy, type 2S	615356	C3809236	OMIM	1	983	25751	614138
HP:0002305	HP:0002305	Athetosis	0	TWNK CL E G H	56652	271245	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)	271245	C1849096	OMIM	1	450	1160	606075
HP:0002305	HP:0002305	Athetosis	0	UBA5 CL E G H	79876	617132	Epileptic encephalopathy, early infantile, 44	617132	C4310700	OMIM	1	223	23230	610552
HP:0002305	HP:0002305	Athetosis	0	UBQLN2 CL E G H	29978	300857	Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia	300857	C3275459	OMIM	1	273	12509	300264
HP:0002305	HP:0002305	Athetosis	0	UQCRQ CL E G H	27089	615159	Mitochondrial complex III deficiency, nuclear type 4	615159	C3554607	OMIM	1	102	29594	612080
HP:0002305	HP:0002305	Athetosis	0	WARS2 CL E G H	10352	617710	NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES	617710	C4540192	OMIM	1	144	12730	604733
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002305	HP:0002305	Athetosis	0	CACNA1D CL E G H	776	615474	Primary aldosteronism, seizures, and neurologic abnormalities	615474	C3809609	OMIM	0	1548	1391	114206
HP:0002305	HP:0002305	Athetosis	0	GNAO1 CL E G H	2775	615473	Early infantile epileptic encephalopathy 17	615473	C3809606	OMIM	0	429	4389	139311
HP:0002305	HP:0002305	Athetosis	0	HCFC1 CL E G H	3054	309541	Mental retardation 3, X-linked	309541	C0796208	OMIM	0	858	4839	300019
HP:0002305	HP:0002305	Athetosis	0	PHGDH CL E G H	26227	79351				ORPHA	0	694	8923	606879
HP:0002305	HP:0002305	Athetosis	0	PIGN CL E G H	23556	280633	Multiple congenital anomalies-hypotonia-seizures syndrome		CN228166	ORPHA	0	1010	8967	606097
HP:0002305	HP:0002305	Athetosis	0	RNASET2 CL E G H	8635	612951	Leukoencephalopathy, cystic, without megalencephaly	612951	C2751843	OMIM	0	199	21686	612944