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:0100012	HP:0100012	Neoplasm of the eye	0	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome		54
HP:0100012	HP:0100012	Neoplasm of the eye	0	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome		54
HP:0100012	HP:0100012	Neoplasm of the eye	0	BAP1 CL E G H	8314	950	OMIM:606661	MELANOMA, UVEAL, SUSCEPTIBILITY TO, 2		184
HP:0100012	HP:0100012	Neoplasm of the eye	0	BAP1 CL E G H	8314	950	OMIM:614327	Tumor predisposition syndrome		184
HP:0100012	HP:0100012	Neoplasm of the eye	0	BAP1 CL E G H	8314	950	ORPHA:39044	Uveal melanoma		184
HP:0100012	HP:0100012	Neoplasm of the eye	0	BRAF CL E G H	673	1097	OMIM:155600	Melanoma, cutaneous malignant		276
HP:0100012	HP:0100012	Neoplasm of the eye	0	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease		1
HP:0100012	HP:0100012	Neoplasm of the eye	0	CCND1 CL E G H	595	1582	OMIM:193300	Von hippel-lindau syndrome		1
HP:0100012	HP:0100012	Neoplasm of the eye	0	CHEK2 CL E G H	11200	16627	OMIM:259500	Osteosarcoma		833
HP:0100012	HP:0100012	Neoplasm of the eye	0	CYSLTR2 CL E G H	57105	18274	ORPHA:39044	Uveal melanoma		1
HP:0100012	HP:0100012	Neoplasm of the eye	0	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional	30
HP:0100012	HP:0100012	Neoplasm of the eye	0	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0100012	HP:0100012	Neoplasm of the eye	0	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional	106
HP:0100012	HP:0100012	Neoplasm of the eye	0	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional	54
HP:0100012	HP:0100012	Neoplasm of the eye	0	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional	158
HP:0100012	HP:0100012	Neoplasm of the eye	0	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional	83
HP:0100012	HP:0100012	Neoplasm of the eye	0	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		301
HP:0100012	HP:0100012	Neoplasm of the eye	0	GNA11 CL E G H	2767	4379	ORPHA:39044	Uveal melanoma		16
HP:0100012	HP:0100012	Neoplasm of the eye	0	GNAQ CL E G H	2776	4390	ORPHA:39044	Uveal melanoma		7
HP:0100012	HP:0100012	Neoplasm of the eye	0	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex		23
HP:0100012	HP:0100012	Neoplasm of the eye	0	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2		23
HP:0100012	HP:0100012	Neoplasm of the eye	0	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		202
HP:0100012	HP:0100012	Neoplasm of the eye	0	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome		1
HP:0100012	HP:0100012	Neoplasm of the eye	0	KRT1 CL E G H	3848	6412	ORPHA:312	Autosomal dominant epidermolytic ichthyosis		100
HP:0100012	HP:0100012	Neoplasm of the eye	0	KRT10 CL E G H	3858	6413	ORPHA:312	Autosomal dominant epidermolytic ichthyosis		45
HP:0100012	HP:0100012	Neoplasm of the eye	0	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		84
HP:0100012	HP:0100012	Neoplasm of the eye	0	MBD4 CL E G H	8930	6919	OMIM:619975			1
HP:0100012	HP:0100012	Neoplasm of the eye	0	MBD4 CL E G H	8930	6919	OMIM:606660	MELANOMA, UVEAL, SUSCEPTIBILITY TO, 1		1
HP:0100012	HP:0100012	Neoplasm of the eye	0	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		4
HP:0100012	HP:0100012	Neoplasm of the eye	0	MSH6 CL E G H	2956	7329	OMIM:619097	MISMATCH REPAIR CANCER SYNDROME 3; MMRCS3		2232
HP:0100012	HP:0100012	Neoplasm of the eye	0	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease	HP:0040281 - Very frequent	39
HP:0100012	HP:0100012	Neoplasm of the eye	0	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome		1952
HP:0100012	HP:0100012	Neoplasm of the eye	0	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		1952
HP:0100012	HP:0100012	Neoplasm of the eye	0	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion		1952
HP:0100012	HP:0100012	Neoplasm of the eye	0	NF1 CL E G H	4763	7765	OMIM:162210	Neurofibromatosis, familial spinal		1952
HP:0100012	HP:0100012	Neoplasm of the eye	0	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I		1952
HP:0100012	HP:0100012	Neoplasm of the eye	0	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome		1952
HP:0100012	HP:0100012	Neoplasm of the eye	0	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2		220
HP:0100012	HP:0100012	Neoplasm of the eye	0	NF2 CL E G H	4771	7773	OMIM:101000	Neurofibromatosis, type II		220
HP:0100012	HP:0100012	Neoplasm of the eye	0	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome		162
HP:0100012	HP:0100012	Neoplasm of the eye	0	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome		948
HP:0100012	HP:0100012	Neoplasm of the eye	0	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome		948
HP:0100012	HP:0100012	Neoplasm of the eye	0	RB1 CL E G H	5925	9884	ORPHA:1587	Monosomy 13q14		365
HP:0100012	HP:0100012	Neoplasm of the eye	0	RB1 CL E G H	5925	9884	OMIM:259500	Osteosarcoma		365
HP:0100012	HP:0100012	Neoplasm of the eye	0	RB1 CL E G H	5925	9884	OMIM:180200	RETINOBLASTOMA		365
HP:0100012	HP:0100012	Neoplasm of the eye	0	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		572
HP:0100012	HP:0100012	Neoplasm of the eye	0	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		304
HP:0100012	HP:0100012	Neoplasm of the eye	0	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		55
HP:0100012	HP:0100012	Neoplasm of the eye	0	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome		237
HP:0100012	HP:0100012	Neoplasm of the eye	0	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		237
HP:0100012	HP:0100012	Neoplasm of the eye	0	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome		147
HP:0100012	HP:0100012	Neoplasm of the eye	0	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		147
HP:0100012	HP:0100012	Neoplasm of the eye	0	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome		129
HP:0100012	HP:0100012	Neoplasm of the eye	0	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		129
HP:0100012	HP:0100012	Neoplasm of the eye	0	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome		60
HP:0100012	HP:0100012	Neoplasm of the eye	0	SF3B1 CL E G H	23451	10768	ORPHA:39044	Uveal melanoma		19
HP:0100012	HP:0100012	Neoplasm of the eye	0	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0100012	HP:0100012	Neoplasm of the eye	0	STK11 CL E G H	6794	11389	OMIM:155600	Melanoma, cutaneous malignant		740
HP:0100012	HP:0100012	Neoplasm of the eye	0	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		131
HP:0100012	HP:0100012	Neoplasm of the eye	0	TP53 CL E G H	7157	11998	OMIM:259500	Osteosarcoma		911
HP:0100012	HP:0100012	Neoplasm of the eye	0	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis		1090
HP:0100012	HP:0100012	Neoplasm of the eye	0	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex		1090
HP:0100012	HP:0100012	Neoplasm of the eye	0	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis		2738
HP:0100012	HP:0100012	Neoplasm of the eye	0	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex		2738
HP:0100012	HP:0100012	Neoplasm of the eye	0	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2		2738
HP:0100012	HP:0100012	Neoplasm of the eye	0	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome		1
HP:0100012	HP:0100012	Neoplasm of the eye	0	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		490
HP:0100012	HP:0100012	Neoplasm of the eye	0	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease		490
HP:0100012	HP:0100012	Neoplasm of the eye	0	VHL CL E G H	7428	12687	OMIM:193300	Von hippel-lindau syndrome		490
HP:0100012	HP:0100012	Neoplasm of the eye	0	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional	34
HP:0100012	HP:0100012	Neoplasm of the eye	0	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional	86
HP:0100012	HP:0025604	Orbital schwannoma	1	CL E G H
HP:0100012	HP:0100011	Scleral schwannoma	1	CL E G H
HP:0100012	HP:0010568	Hamartoma of the eye	1	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome		54
HP:0100012	HP:0010568	Hamartoma of the eye	1	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome		54
HP:0100012	HP:0007716	Uveal melanoma	1	BAP1 CL E G H	8314	950	OMIM:606661	MELANOMA, UVEAL, SUSCEPTIBILITY TO, 2		184
HP:0100012	HP:0007716	Uveal melanoma	1	BAP1 CL E G H	8314	950	OMIM:614327	Tumor predisposition syndrome	.	184
HP:0100012	HP:0007716	Uveal melanoma	1	BAP1 CL E G H	8314	950	ORPHA:39044	Uveal melanoma		184
HP:0100012	HP:0007716	Uveal melanoma	1	BRAF CL E G H	673	1097	OMIM:155600	Melanoma, cutaneous malignant	.	276
HP:0100012	HP:0010568	Hamartoma of the eye	1	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease		1
HP:0100012	HP:0010568	Hamartoma of the eye	1	CCND1 CL E G H	595	1582	OMIM:193300	Von hippel-lindau syndrome		1
HP:0100012	HP:0012777	Retinal neoplasm	1	CHEK2 CL E G H	11200	16627	OMIM:259500	Osteosarcoma		833
HP:0100012	HP:0007716	Uveal melanoma	1	CYSLTR2 CL E G H	57105	18274	ORPHA:39044	Uveal melanoma		1
HP:0100012	HP:0010568	Hamartoma of the eye	1	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0100012	HP:0010568	Hamartoma of the eye	1	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		301
HP:0100012	HP:0007716	Uveal melanoma	1	GNA11 CL E G H	2767	4379	ORPHA:39044	Uveal melanoma		16
HP:0100012	HP:0007716	Uveal melanoma	1	GNAQ CL E G H	2776	4390	ORPHA:39044	Uveal melanoma		7
HP:0100012	HP:0010568	Hamartoma of the eye	1	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex		23
HP:0100012	HP:0010568	Hamartoma of the eye	1	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2		23
HP:0100012	HP:0010568	Hamartoma of the eye	1	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		202
HP:0100012	HP:0010568	Hamartoma of the eye	1	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome		1
HP:0100012	HP:0010568	Hamartoma of the eye	1	KRT1 CL E G H	3848	6412	ORPHA:312	Autosomal dominant epidermolytic ichthyosis		100
HP:0100012	HP:0010568	Hamartoma of the eye	1	KRT10 CL E G H	3858	6413	ORPHA:312	Autosomal dominant epidermolytic ichthyosis		45
HP:0100012	HP:0010568	Hamartoma of the eye	1	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		84
HP:0100012	HP:0007716	Uveal melanoma	1	MBD4 CL E G H	8930	6919	OMIM:619975			1
HP:0100012	HP:0007716	Uveal melanoma	1	MBD4 CL E G H	8930	6919	OMIM:606660	MELANOMA, UVEAL, SUSCEPTIBILITY TO, 1		1
HP:0100012	HP:0010568	Hamartoma of the eye	1	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		4
HP:0100012	HP:0010568	Hamartoma of the eye	1	MSH6 CL E G H	2956	7329	OMIM:619097	MISMATCH REPAIR CANCER SYNDROME 3; MMRCS3		2232
HP:0100012	HP:0010568	Hamartoma of the eye	1	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome		1952
HP:0100012	HP:0010568	Hamartoma of the eye	1	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		1952
HP:0100012	HP:0010568	Hamartoma of the eye	1	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion		1952
HP:0100012	HP:0010568	Hamartoma of the eye	1	NF1 CL E G H	4763	7765	OMIM:162210	Neurofibromatosis, familial spinal		1952
HP:0100012	HP:0010568	Hamartoma of the eye	1	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I		1952
HP:0100012	HP:0010568	Hamartoma of the eye	1	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome		1952
HP:0100012	HP:0010568	Hamartoma of the eye	1	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2		220
HP:0100012	HP:0010568	Hamartoma of the eye	1	NF2 CL E G H	4771	7773	OMIM:101000	Neurofibromatosis, type II		220
HP:0100012	HP:0010568	Hamartoma of the eye	1	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome		162
HP:0100012	HP:0010568	Hamartoma of the eye	1	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome		948
HP:0100012	HP:0010568	Hamartoma of the eye	1	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome		948
HP:0100012	HP:0012777	Retinal neoplasm	1	RB1 CL E G H	5925	9884	ORPHA:1587	Monosomy 13q14		365
HP:0100012	HP:0012777	Retinal neoplasm	1	RB1 CL E G H	5925	9884	OMIM:259500	Osteosarcoma		365
HP:0100012	HP:0012777	Retinal neoplasm	1	RB1 CL E G H	5925	9884	OMIM:180200	RETINOBLASTOMA		365
HP:0100012	HP:0010568	Hamartoma of the eye	1	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		572
HP:0100012	HP:0010568	Hamartoma of the eye	1	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		304
HP:0100012	HP:0010568	Hamartoma of the eye	1	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		55
HP:0100012	HP:0010568	Hamartoma of the eye	1	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome		237
HP:0100012	HP:0010568	Hamartoma of the eye	1	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		237
HP:0100012	HP:0010568	Hamartoma of the eye	1	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome		147
HP:0100012	HP:0010568	Hamartoma of the eye	1	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		147
HP:0100012	HP:0010568	Hamartoma of the eye	1	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome		129
HP:0100012	HP:0010568	Hamartoma of the eye	1	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		129
HP:0100012	HP:0010568	Hamartoma of the eye	1	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome		60
HP:0100012	HP:0007716	Uveal melanoma	1	SF3B1 CL E G H	23451	10768	ORPHA:39044	Uveal melanoma		19
HP:0100012	HP:0010568	Hamartoma of the eye	1	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0100012	HP:0007716	Uveal melanoma	1	STK11 CL E G H	6794	11389	OMIM:155600	Melanoma, cutaneous malignant	.	740
HP:0100012	HP:0010568	Hamartoma of the eye	1	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		131
HP:0100012	HP:0012777	Retinal neoplasm	1	TP53 CL E G H	7157	11998	OMIM:259500	Osteosarcoma		911
HP:0100012	HP:0010568	Hamartoma of the eye	1	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis		1090
HP:0100012	HP:0010568	Hamartoma of the eye	1	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex		1090
HP:0100012	HP:0010568	Hamartoma of the eye	1	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis		2738
HP:0100012	HP:0010568	Hamartoma of the eye	1	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex		2738
HP:0100012	HP:0010568	Hamartoma of the eye	1	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2		2738
HP:0100012	HP:0010568	Hamartoma of the eye	1	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome		1
HP:0100012	HP:0010568	Hamartoma of the eye	1	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		490
HP:0100012	HP:0010568	Hamartoma of the eye	1	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease		490
HP:0100012	HP:0010568	Hamartoma of the eye	1	VHL CL E G H	7428	12687	OMIM:193300	Von hippel-lindau syndrome		490
HP:0100012	HP:0100780	Conjunctival hamartoma	2	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	54
HP:0100012	HP:0009594	Retinal hamartoma	2	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional	54
HP:0100012	HP:0011524	Iris melanoma	2	BAP1 CL E G H	8314	950	ORPHA:39044	Uveal melanoma	HP:0040282 - Frequent	184
HP:0100012	HP:0012054	Choroidal melanoma	2	BAP1 CL E G H	8314	950	ORPHA:39044	Uveal melanoma	HP:0040281 - Very frequent	184
HP:0100012	HP:0012055	Ciliary body melanoma	2	BAP1 CL E G H	8314	950	ORPHA:39044	Uveal melanoma	HP:0040282 - Frequent	184
HP:0100012	HP:0009594	Retinal hamartoma	2	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease		1
HP:0100012	HP:0009594	Retinal hamartoma	2	CCND1 CL E G H	595	1582	OMIM:193300	Von hippel-lindau syndrome		1
HP:0100012	HP:0009919	Retinoblastoma	2	CHEK2 CL E G H	11200	16627	OMIM:259500	Osteosarcoma	.	833
HP:0100012	HP:0012055	Ciliary body melanoma	2	CYSLTR2 CL E G H	57105	18274	ORPHA:39044	Uveal melanoma	HP:0040282 - Frequent	1
HP:0100012	HP:0011524	Iris melanoma	2	CYSLTR2 CL E G H	57105	18274	ORPHA:39044	Uveal melanoma	HP:0040282 - Frequent	1
HP:0100012	HP:0012054	Choroidal melanoma	2	CYSLTR2 CL E G H	57105	18274	ORPHA:39044	Uveal melanoma	HP:0040281 - Very frequent	1
HP:0100012	HP:0009594	Retinal hamartoma	2	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0100012	HP:0009594	Retinal hamartoma	2	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		301
HP:0100012	HP:0012055	Ciliary body melanoma	2	GNA11 CL E G H	2767	4379	ORPHA:39044	Uveal melanoma	HP:0040282 - Frequent	16
HP:0100012	HP:0011524	Iris melanoma	2	GNA11 CL E G H	2767	4379	ORPHA:39044	Uveal melanoma	HP:0040282 - Frequent	16
HP:0100012	HP:0012054	Choroidal melanoma	2	GNA11 CL E G H	2767	4379	ORPHA:39044	Uveal melanoma	HP:0040281 - Very frequent	16
HP:0100012	HP:0012054	Choroidal melanoma	2	GNAQ CL E G H	2776	4390	ORPHA:39044	Uveal melanoma	HP:0040281 - Very frequent	7
HP:0100012	HP:0012055	Ciliary body melanoma	2	GNAQ CL E G H	2776	4390	ORPHA:39044	Uveal melanoma	HP:0040282 - Frequent	7
HP:0100012	HP:0011524	Iris melanoma	2	GNAQ CL E G H	2776	4390	ORPHA:39044	Uveal melanoma	HP:0040282 - Frequent	7
HP:0100012	HP:0009594	Retinal hamartoma	2	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent	23
HP:0100012	HP:0009594	Retinal hamartoma	2	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2		23
HP:0100012	HP:0009594	Retinal hamartoma	2	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		202
HP:0100012	HP:0100780	Conjunctival hamartoma	2	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	1
HP:0100012	HP:0100780	Conjunctival hamartoma	2	KRT1 CL E G H	3848	6412	ORPHA:312	Autosomal dominant epidermolytic ichthyosis	HP:0040283 - Occasional	100
HP:0100012	HP:0100780	Conjunctival hamartoma	2	KRT10 CL E G H	3858	6413	ORPHA:312	Autosomal dominant epidermolytic ichthyosis	HP:0040283 - Occasional	45
HP:0100012	HP:0009594	Retinal hamartoma	2	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		84
HP:0100012	HP:0009594	Retinal hamartoma	2	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		4
HP:0100012	HP:0009737	Lisch nodules	2	MSH6 CL E G H	2956	7329	OMIM:619097	MISMATCH REPAIR CANCER SYNDROME 3; MMRCS3		2232
HP:0100012	HP:0009737	Lisch nodules	2	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040282 - Frequent	1952
HP:0100012	HP:0009594	Retinal hamartoma	2	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		1952
HP:0100012	HP:0009737	Lisch nodules	2	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion	HP:0040282 - Frequent	1952
HP:0100012	HP:0009737	Lisch nodules	2	NF1 CL E G H	4763	7765	OMIM:162210	Neurofibromatosis, familial spinal	.	1952
HP:0100012	HP:0009737	Lisch nodules	2	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I		1952
HP:0100012	HP:0009737	Lisch nodules	2	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome		1952
HP:0100012	HP:0009594	Retinal hamartoma	2	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2	HP:0040283 - Occasional	220
HP:0100012	HP:0009594	Retinal hamartoma	2	NF2 CL E G H	4771	7773	OMIM:101000	Neurofibromatosis, type II		220
HP:0100012	HP:0100780	Conjunctival hamartoma	2	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	162
HP:0100012	HP:0100780	Conjunctival hamartoma	2	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	948
HP:0100012	HP:0009594	Retinal hamartoma	2	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional	948
HP:0100012	HP:0009919	Retinoblastoma	2	RB1 CL E G H	5925	9884	ORPHA:1587	Monosomy 13q14	HP:0040282 - Frequent	365
HP:0100012	HP:0009919	Retinoblastoma	2	RB1 CL E G H	5925	9884	OMIM:259500	Osteosarcoma	.	365
HP:0100012	HP:0009919	Retinoblastoma	2	RB1 CL E G H	5925	9884	OMIM:180200	RETINOBLASTOMA	.	365
HP:0100012	HP:0009594	Retinal hamartoma	2	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		572
HP:0100012	HP:0009594	Retinal hamartoma	2	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		304
HP:0100012	HP:0009594	Retinal hamartoma	2	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		55
HP:0100012	HP:0100780	Conjunctival hamartoma	2	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	237
HP:0100012	HP:0009594	Retinal hamartoma	2	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		237
HP:0100012	HP:0100780	Conjunctival hamartoma	2	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	147
HP:0100012	HP:0009594	Retinal hamartoma	2	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		147
HP:0100012	HP:0100780	Conjunctival hamartoma	2	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	129
HP:0100012	HP:0009594	Retinal hamartoma	2	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		129
HP:0100012	HP:0100780	Conjunctival hamartoma	2	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	60
HP:0100012	HP:0011524	Iris melanoma	2	SF3B1 CL E G H	23451	10768	ORPHA:39044	Uveal melanoma	HP:0040282 - Frequent	19
HP:0100012	HP:0012054	Choroidal melanoma	2	SF3B1 CL E G H	23451	10768	ORPHA:39044	Uveal melanoma	HP:0040281 - Very frequent	19
HP:0100012	HP:0012055	Ciliary body melanoma	2	SF3B1 CL E G H	23451	10768	ORPHA:39044	Uveal melanoma	HP:0040282 - Frequent	19
HP:0100012	HP:0009594	Retinal hamartoma	2	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0100012	HP:0009594	Retinal hamartoma	2	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		131
HP:0100012	HP:0009919	Retinoblastoma	2	TP53 CL E G H	7157	11998	OMIM:259500	Osteosarcoma	.	911
HP:0100012	HP:0009594	Retinal hamartoma	2	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis	HP:0040283 - Occasional	1090
HP:0100012	HP:0009594	Retinal hamartoma	2	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent	1090
HP:0100012	HP:0009594	Retinal hamartoma	2	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis	HP:0040283 - Occasional	2738
HP:0100012	HP:0009594	Retinal hamartoma	2	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent	2738
HP:0100012	HP:0009594	Retinal hamartoma	2	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2		2738
HP:0100012	HP:0100780	Conjunctival hamartoma	2	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	1
HP:0100012	HP:0009594	Retinal hamartoma	2	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		490
HP:0100012	HP:0009594	Retinal hamartoma	2	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease		490
HP:0100012	HP:0009594	Retinal hamartoma	2	VHL CL E G H	7428	12687	OMIM:193300	Von hippel-lindau syndrome		490
HP:0100012	HP:0030510	Combined hamartoma of the retinal pigment epithelium and retina	3	CL E G H
HP:0100012	HP:0030509	Retinal racemose hemangioma	3	CL E G H
HP:0100012	HP:0030508	Retinal cavernous hemangioma	3	CL E G H
HP:0100012	HP:0009711	Retinal capillary hemangioma	3	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease	HP:0040282 - Frequent	1
HP:0100012	HP:0009711	Retinal capillary hemangioma	3	CCND1 CL E G H	595	1582	OMIM:193300	Von hippel-lindau syndrome	.	1
HP:0100012	HP:0009711	Retinal capillary hemangioma	3	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional
HP:0100012	HP:0009711	Retinal capillary hemangioma	3	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	301
HP:0100012	HP:0012778	Retinal astrocytic hamartoma	3	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex	HP:0040284 - Very rare	23
HP:0100012	HP:0009711	Retinal capillary hemangioma	3	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	202
HP:0100012	HP:0009711	Retinal capillary hemangioma	3	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	84
HP:0100012	HP:0009711	Retinal capillary hemangioma	3	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	4
HP:0100012	HP:0009711	Retinal capillary hemangioma	3	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	1952
HP:0100012	HP:0009711	Retinal capillary hemangioma	3	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	572
HP:0100012	HP:0009711	Retinal capillary hemangioma	3	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	304
HP:0100012	HP:0009711	Retinal capillary hemangioma	3	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	55
HP:0100012	HP:0009711	Retinal capillary hemangioma	3	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	237
HP:0100012	HP:0009711	Retinal capillary hemangioma	3	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	147
HP:0100012	HP:0009711	Retinal capillary hemangioma	3	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	129
HP:0100012	HP:0009711	Retinal capillary hemangioma	3	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional
HP:0100012	HP:0009711	Retinal capillary hemangioma	3	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	131
HP:0100012	HP:0012778	Retinal astrocytic hamartoma	3	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex	HP:0040284 - Very rare	1090
HP:0100012	HP:0012778	Retinal astrocytic hamartoma	3	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex	HP:0040284 - Very rare	2738
HP:0100012	HP:0009711	Retinal capillary hemangioma	3	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	490
HP:0100012	HP:0009711	Retinal capillary hemangioma	3	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease	HP:0040282 - Frequent	490
HP:0100012	HP:0009711	Retinal capillary hemangioma	3	VHL CL E G H	7428	12687	OMIM:193300	Von hippel-lindau syndrome	.	490