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:0000617	HP:0000617	Abnormality of ocular smooth pursuit	0	INPP5E CL E G H	56623	213300	Joubert syndrome 1	213300	CN119531	OMIM	1	782	21474	613037
HP:0000617	HP:0000617	Abnormality of ocular smooth pursuit	0	POLR3A CL E G H	11128	447896				ORPHA	1	1025	30074	614258
HP:0000617	HP:0000617	Abnormality of ocular smooth pursuit	0	SYT14 CL E G H	255928	284271				ORPHA	1	104	23143	610949
HP:0000617	HP:0000617	Abnormality of ocular smooth pursuit	0	TMEM216 CL E G H	51259	608091	Joubert syndrome 2	608091	C1842577	OMIM	1	236	25018	613277
HP:0000617	HP:0007668	Impaired pursuit initiation and maintenance	1	INPP5E CL E G H	56623	213300	Joubert syndrome 1	213300	CN119531	OMIM	1	782	21474	613037
HP:0000617	HP:0008003	Jerky ocular pursuit movements	1	INPP5E CL E G H	56623	213300	Joubert syndrome 1	213300	CN119531	OMIM	1	782	21474	613037
HP:0000617	HP:0007772	Impaired smooth pursuit	1	INPP5E CL E G H	56623	213300	Joubert syndrome 1	213300	CN119531	OMIM	1	782	21474	613037
HP:0000617	HP:0001152	Saccadic smooth pursuit	1	INPP5E CL E G H	56623	213300	Joubert syndrome 1	213300	CN119531	OMIM	1	782	21474	613037
HP:0000617	HP:0007668	Impaired pursuit initiation and maintenance	1	POLR3A CL E G H	11128	447896				ORPHA	1	1025	30074	614258
HP:0000617	HP:0008003	Jerky ocular pursuit movements	1	POLR3A CL E G H	11128	447896				ORPHA	1	1025	30074	614258
HP:0000617	HP:0007772	Impaired smooth pursuit	1	POLR3A CL E G H	11128	447896				ORPHA	1	1025	30074	614258
HP:0000617	HP:0001152	Saccadic smooth pursuit	1	POLR3A CL E G H	11128	447896				ORPHA	1	1025	30074	614258
HP:0000617	HP:0007772	Impaired smooth pursuit	1	SYT14 CL E G H	255928	284271				ORPHA	1	104	23143	610949
HP:0000617	HP:0001152	Saccadic smooth pursuit	1	SYT14 CL E G H	255928	284271				ORPHA	1	104	23143	610949
HP:0000617	HP:0007668	Impaired pursuit initiation and maintenance	1	SYT14 CL E G H	255928	284271				ORPHA	1	104	23143	610949
HP:0000617	HP:0008003	Jerky ocular pursuit movements	1	SYT14 CL E G H	255928	284271				ORPHA	1	104	23143	610949
HP:0000617	HP:0007772	Impaired smooth pursuit	1	TMEM216 CL E G H	51259	608091	Joubert syndrome 2	608091	C1842577	OMIM	1	236	25018	613277
HP:0000617	HP:0001152	Saccadic smooth pursuit	1	TMEM216 CL E G H	51259	608091	Joubert syndrome 2	608091	C1842577	OMIM	1	236	25018	613277
HP:0000617	HP:0007668	Impaired pursuit initiation and maintenance	1	TMEM216 CL E G H	51259	608091	Joubert syndrome 2	608091	C1842577	OMIM	1	236	25018	613277
HP:0000617	HP:0008003	Jerky ocular pursuit movements	1	TMEM216 CL E G H	51259	608091	Joubert syndrome 2	608091	C1842577	OMIM	1	236	25018	613277
HP:0000617	HP:0007792	Microsaccadic pursuit	2	INPP5E CL E G H	56623	213300	Joubert syndrome 1	213300	CN119531	OMIM	1	782	21474	613037
HP:0000617	HP:0001151	Impaired horizontal smooth pursuit	2	INPP5E CL E G H	56623	213300	Joubert syndrome 1	213300	CN119531	OMIM	1	782	21474	613037
HP:0000617	HP:0007944	Intermittent microsaccadic pursuits	2	INPP5E CL E G H	56623	213300	Joubert syndrome 1	213300	CN119531	OMIM	1	782	21474	613037
HP:0000617	HP:0007179	Absent smooth pursuit	2	INPP5E CL E G H	56623	213300	Joubert syndrome 1	213300	CN119531	OMIM	1	782	21474	613037
HP:0000617	HP:0001151	Impaired horizontal smooth pursuit	2	POLR3A CL E G H	11128	447896				ORPHA	1	1025	30074	614258
HP:0000617	HP:0007792	Microsaccadic pursuit	2	POLR3A CL E G H	11128	447896				ORPHA	1	1025	30074	614258
HP:0000617	HP:0007179	Absent smooth pursuit	2	POLR3A CL E G H	11128	447896				ORPHA	1	1025	30074	614258
HP:0000617	HP:0007944	Intermittent microsaccadic pursuits	2	POLR3A CL E G H	11128	447896				ORPHA	1	1025	30074	614258
HP:0000617	HP:0001151	Impaired horizontal smooth pursuit	2	SYT14 CL E G H	255928	284271				ORPHA	1	104	23143	610949
HP:0000617	HP:0007792	Microsaccadic pursuit	2	SYT14 CL E G H	255928	284271				ORPHA	1	104	23143	610949
HP:0000617	HP:0007179	Absent smooth pursuit	2	SYT14 CL E G H	255928	284271				ORPHA	1	104	23143	610949
HP:0000617	HP:0007944	Intermittent microsaccadic pursuits	2	SYT14 CL E G H	255928	284271				ORPHA	1	104	23143	610949
HP:0000617	HP:0001151	Impaired horizontal smooth pursuit	2	TMEM216 CL E G H	51259	608091	Joubert syndrome 2	608091	C1842577	OMIM	1	236	25018	613277
HP:0000617	HP:0007792	Microsaccadic pursuit	2	TMEM216 CL E G H	51259	608091	Joubert syndrome 2	608091	C1842577	OMIM	1	236	25018	613277
HP:0000617	HP:0007179	Absent smooth pursuit	2	TMEM216 CL E G H	51259	608091	Joubert syndrome 2	608091	C1842577	OMIM	1	236	25018	613277
HP:0000617	HP:0007944	Intermittent microsaccadic pursuits	2	TMEM216 CL E G H	51259	608091	Joubert syndrome 2	608091	C1842577	OMIM	1	236	25018	613277
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000617	HP:0000617	Abnormality of ocular smooth pursuit	0	MRE11 CL E G H	4361	251347				ORPHA	0	1911	7230	600814
HP:0000617	HP:0007772	Impaired smooth pursuit	1	MRE11 CL E G H	4361	251347				ORPHA	0	1911	7230	600814
HP:0000617	HP:0001152	Saccadic smooth pursuit	1	MRE11 CL E G H	4361	251347				ORPHA	0	1911	7230	600814
HP:0000617	HP:0007668	Impaired pursuit initiation and maintenance	1	MRE11 CL E G H	4361	251347				ORPHA	0	1911	7230	600814
HP:0000617	HP:0008003	Jerky ocular pursuit movements	1	MRE11 CL E G H	4361	251347				ORPHA	0	1911	7230	600814
HP:0000617	HP:0007179	Absent smooth pursuit	2	MRE11 CL E G H	4361	251347				ORPHA	0	1911	7230	600814
HP:0000617	HP:0007944	Intermittent microsaccadic pursuits	2	MRE11 CL E G H	4361	251347				ORPHA	0	1911	7230	600814
HP:0000617	HP:0007792	Microsaccadic pursuit	2	MRE11 CL E G H	4361	251347				ORPHA	0	1911	7230	600814
HP:0000617	HP:0001151	Impaired horizontal smooth pursuit	2	MRE11 CL E G H	4361	251347				ORPHA	0	1911	7230	600814