Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0009731	HP:0009731	Cerebral hamartoma	0	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0009731	HP:0009731	Cerebral hamartoma	0	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0009731	HP:0009731	Cerebral hamartoma	0	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0009731	HP:0009731	Cerebral hamartoma	0	GCDH CL E G H	2639	4189	ORPHA:25	Glutaryl-CoA dehydrogenase deficiency		115
HP:0009731	HP:0009731	Cerebral hamartoma	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome		270
HP:0009731	HP:0009731	Cerebral hamartoma	0	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome		270
HP:0009731	HP:0009731	Cerebral hamartoma	0	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex		23
HP:0009731	HP:0009731	Cerebral hamartoma	0	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2		23
HP:0009731	HP:0009731	Cerebral hamartoma	0	KIAA0753 CL E G H	9851	29110	ORPHA:2754	Orofaciodigital syndrome type 6		4
HP:0009731	HP:0009731	Cerebral hamartoma	0	KIF7 CL E G H	374654	30497	ORPHA:2754	Orofaciodigital syndrome type 6		167
HP:0009731	HP:0009731	Cerebral hamartoma	0	MAN2C1 CL E G H	4123	6827	OMIM:619775	CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0009731	HP:0009731	Cerebral hamartoma	0	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I		201
HP:0009731	HP:0009731	Cerebral hamartoma	0	OFD1 CL E G H	8481	2567	ORPHA:2754	Orofaciodigital syndrome type 6		201
HP:0009731	HP:0009731	Cerebral hamartoma	0	PDE6D CL E G H	5147	8788	ORPHA:2754	Orofaciodigital syndrome type 6		1
HP:0009731	HP:0009731	Cerebral hamartoma	0	SIX6 CL E G H	4990	10892	OMIM:206900	Microphthalmia, syndromic 3		20
HP:0009731	HP:0009731	Cerebral hamartoma	0	SMO CL E G H	6608	11119	OMIM:241800	Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included		22
HP:0009731	HP:0009731	Cerebral hamartoma	0	SOX2 CL E G H	6657	11195	OMIM:206900	Microphthalmia, syndromic 3		33
HP:0009731	HP:0009731	Cerebral hamartoma	0	TCTN3 CL E G H	26123	24519	ORPHA:2754	Orofaciodigital syndrome type 6		31
HP:0009731	HP:0009731	Cerebral hamartoma	0	TIAM1 CL E G H	7074	11805	OMIM:619908			2
HP:0009731	HP:0009731	Cerebral hamartoma	0	TMEM216 CL E G H	51259	25018	ORPHA:2754	Orofaciodigital syndrome type 6		45
HP:0009731	HP:0009731	Cerebral hamartoma	0	TOPORS CL E G H	10210	21653	ORPHA:2754	Orofaciodigital syndrome type 6		61
HP:0009731	HP:0009731	Cerebral hamartoma	0	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex		1090
HP:0009731	HP:0009731	Cerebral hamartoma	0	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1		1090
HP:0009731	HP:0009731	Cerebral hamartoma	0	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex		2738
HP:0009731	HP:0009731	Cerebral hamartoma	0	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2		2738
HP:0009731	HP:0009731	Cerebral hamartoma	0	VPS16 CL E G H	64601	14584	OMIM:619291	DYSTONIA 30; DYT30
HP:0009731	HP:0002444	Hypothalamic hamartoma	1	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional
HP:0009731	HP:0002444	Hypothalamic hamartoma	1	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI	.
HP:0009731	HP:0002444	Hypothalamic hamartoma	1	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional
HP:0009731	HP:0009716	Subependymal nodules	1	GCDH CL E G H	2639	4189	ORPHA:25	Glutaryl-CoA dehydrogenase deficiency	HP:0040282 - Frequent	115
HP:0009731	HP:0002444	Hypothalamic hamartoma	1	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome		270
HP:0009731	HP:0002444	Hypothalamic hamartoma	1	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040280 - Obligate	270
HP:0009731	HP:0009716	Subependymal nodules	1	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex	HP:0040281 - Very frequent	23
HP:0009731	HP:0009717	Cortical tubers	1	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex	HP:0040281 - Very frequent	23
HP:0009731	HP:0009716	Subependymal nodules	1	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2		23
HP:0009731	HP:0009717	Cortical tubers	1	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2		23
HP:0009731	HP:0002444	Hypothalamic hamartoma	1	KIAA0753 CL E G H	9851	29110	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional	4
HP:0009731	HP:0002444	Hypothalamic hamartoma	1	KIF7 CL E G H	374654	30497	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional	167
HP:0009731	HP:0002444	Hypothalamic hamartoma	1	MAN2C1 CL E G H	4123	6827	OMIM:619775	CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0009731	HP:0002444	Hypothalamic hamartoma	1	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I	.	201
HP:0009731	HP:0002444	Hypothalamic hamartoma	1	OFD1 CL E G H	8481	2567	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional	201
HP:0009731	HP:0002444	Hypothalamic hamartoma	1	PDE6D CL E G H	5147	8788	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional	1
HP:0009731	HP:0002444	Hypothalamic hamartoma	1	SIX6 CL E G H	4990	10892	OMIM:206900	Microphthalmia, syndromic 3	.	20
HP:0009731	HP:0002444	Hypothalamic hamartoma	1	SMO CL E G H	6608	11119	OMIM:241800	Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included	.	22
HP:0009731	HP:0002444	Hypothalamic hamartoma	1	SOX2 CL E G H	6657	11195	OMIM:206900	Microphthalmia, syndromic 3	.	33
HP:0009731	HP:0002444	Hypothalamic hamartoma	1	TCTN3 CL E G H	26123	24519	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional	31
HP:0009731	HP:0002444	Hypothalamic hamartoma	1	TIAM1 CL E G H	7074	11805	OMIM:619908			2
HP:0009731	HP:0002444	Hypothalamic hamartoma	1	TMEM216 CL E G H	51259	25018	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional	45
HP:0009731	HP:0002444	Hypothalamic hamartoma	1	TOPORS CL E G H	10210	21653	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional	61
HP:0009731	HP:0009716	Subependymal nodules	1	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex	HP:0040281 - Very frequent	1090
HP:0009731	HP:0009717	Cortical tubers	1	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex	HP:0040281 - Very frequent	1090
HP:0009731	HP:0009716	Subependymal nodules	1	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1	.	1090
HP:0009731	HP:0009717	Cortical tubers	1	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1	.	1090
HP:0009731	HP:0009716	Subependymal nodules	1	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex	HP:0040281 - Very frequent	2738
HP:0009731	HP:0009717	Cortical tubers	1	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex	HP:0040281 - Very frequent	2738
HP:0009731	HP:0009716	Subependymal nodules	1	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2		2738
HP:0009731	HP:0009717	Cortical tubers	1	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2		2738
HP:0009731	HP:0002444	Hypothalamic hamartoma	1	VPS16 CL E G H	64601	14584	OMIM:619291	DYSTONIA 30; DYT30