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:0002168	HP:0002168	Scanning speech	0	ATXN1 CL E G H	6310	164400	Spinocerebellar ataxia 1	164400	C0752120	OMIM	1	78	10548	601556
HP:0002168	HP:0002168	Scanning speech	0	ATXN1 CL E G H	6310	164400	Spinocerebellar ataxia 1	164400	C0752120	OMIM	1	76	10548	601556
HP:0002168	HP:0002168	Scanning speech	0	ATXN10 CL E G H	25814	98761				ORPHA	1	101	10549	611150
HP:0002168	HP:0002168	Scanning speech	0	ATXN10 CL E G H	25814	98761				ORPHA	1	99	10549	611150
HP:0002168	HP:0002168	Scanning speech	0	ATXN10 CL E G H	25814	603516	Spinocerebellar ataxia 10	603516	C1963674	OMIM	1	101	10549	611150
HP:0002168	HP:0002168	Scanning speech	0	ATXN10 CL E G H	25814	603516	Spinocerebellar ataxia 10	603516	C1963674	OMIM	1	99	10549	611150
HP:0002168	HP:0002168	Scanning speech	0	CCDC88C CL E G H	440193	423275				ORPHA	1	265	19967	611204
HP:0002168	HP:0002168	Scanning speech	0	CCDC88C CL E G H	440193	423275				ORPHA	1	258	19967	611204
HP:0002168	HP:0002168	Scanning speech	0	COQ2 CL E G H	27235	607426	Coenzyme Q10 deficiency, primary 1	607426	C1843920	OMIM	1	171	25223	609825
HP:0002168	HP:0002168	Scanning speech	0	COQ2 CL E G H	27235	607426	Coenzyme Q10 deficiency, primary 1	607426	C1843920	OMIM	1	137	25223	609825
HP:0002168	HP:0002168	Scanning speech	0	DAB1 CL E G H	1600	363710				ORPHA	1	81	2661	603448
HP:0002168	HP:0002168	Scanning speech	0	DAB1 CL E G H	1600	363710				ORPHA	1	80	2661	603448
HP:0002168	HP:0002168	Scanning speech	0	ITPR1 CL E G H	3708	1065	Camptodactyly joint contractures and facial skeletal dysplasia			ORPHA	1	969	6180	147265
HP:0002168	HP:0002168	Scanning speech	0	ITPR1 CL E G H	3708	1065	Camptodactyly joint contractures and facial skeletal dysplasia			ORPHA	1	895	6180	147265
HP:0002168	HP:0002168	Scanning speech	0	ITPR1 CL E G H	3708	606658	Spinocerebellar ataxia 15	606658	C1847725	OMIM	1	969	6180	147265
HP:0002168	HP:0002168	Scanning speech	0	ITPR1 CL E G H	3708	606658	Spinocerebellar ataxia 15	606658	C1847725	OMIM	1	895	6180	147265
HP:0002168	HP:0002168	Scanning speech	0	PAX6 CL E G H	5080	1065	Camptodactyly joint contractures and facial skeletal dysplasia			ORPHA	1	632	8620	607108
HP:0002168	HP:0002168	Scanning speech	0	PAX6 CL E G H	5080	1065	Camptodactyly joint contractures and facial skeletal dysplasia			ORPHA	1	577	8620	607108
HP:0002168	HP:0002168	Scanning speech	0	PLP1 CL E G H	5354	312080	Pelizaeus-Merzbacher disease	312080	C0205711	OMIM	1	365	9086	300401
HP:0002168	HP:0002168	Scanning speech	0	PLP1 CL E G H	5354	312080	Pelizaeus-Merzbacher disease	312080	C0205711	OMIM	1	335	9086	300401
HP:0002168	HP:0002168	Scanning speech	0	PNPLA6 CL E G H	10908	215470	Boucher Neuhauser syndrome	215470	C1859093	OMIM	1	808	16268	603197
HP:0002168	HP:0002168	Scanning speech	0	PNPLA6 CL E G H	10908	215470	Boucher Neuhauser syndrome	215470	C1859093	OMIM	1	669	16268	603197
HP:0002168	HP:0002168	Scanning speech	0	SACS CL E G H	26278	270550	Spastic ataxia Charlevoix-Saguenay type	270550	C1849140	OMIM	1	2088	10519	604490
HP:0002168	HP:0002168	Scanning speech	0	SACS CL E G H	26278	270550	Spastic ataxia Charlevoix-Saguenay type	270550	C1849140	OMIM	1	1914	10519	604490
HP:0002168	HP:0002168	Scanning speech	0	TMEM240 CL E G H	339453	607454	Spinocerebellar ataxia 21	607454	C1843891	OMIM	1	186	25186	616101
HP:0002168	HP:0002168	Scanning speech	0	TMEM240 CL E G H	339453	607454	Spinocerebellar ataxia 21	607454	C1843891	OMIM	1	176	25186	616101
HP:0002168	HP:0002168	Scanning speech	0	TPP1 CL E G H	1200	284324				ORPHA	1	745	2073	607998
HP:0002168	HP:0002168	Scanning speech	0	TPP1 CL E G H	1200	284324				ORPHA	1	645	2073	607998
HPO disease - gene - phenotype less frequent non-typical associations: