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:0009733	HP:0009733	Glioma	0	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli		3179
HP:0009733	HP:0009733	Glioma	0	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis		3179
HP:0009733	HP:0009733	Glioma	0	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome		3179
HP:0009733	HP:0009733	Glioma	0	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis	HP:0040284 - Very rare	3179
HP:0009733	HP:0009733	Glioma	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome		1
HP:0009733	HP:0009733	Glioma	0	BMPR1A CL E G H	657	1076	ORPHA:440437	Familial colorectal cancer Type X		385
HP:0009733	HP:0009733	Glioma	0	BRCA2 CL E G H	675	1101	OMIM:613029	Glioma susceptibility 3		7642
HP:0009733	HP:0009733	Glioma	0	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1		2
HP:0009733	HP:0009733	Glioma	0	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1		102
HP:0009733	HP:0009733	Glioma	0	CDKN2A CL E G H	1029	1787	ORPHA:524	Li-Fraumeni syndrome		289
HP:0009733	HP:0009733	Glioma	0	CDKN2A CL E G H	1029	1787	OMIM:155755	Melanoma-Astrocytoma syndrome		289
HP:0009733	HP:0009733	Glioma	0	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1		1
HP:0009733	HP:0009733	Glioma	0	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1
HP:0009733	HP:0009733	Glioma	0	CHEK2 CL E G H	11200	16627	ORPHA:524	Li-Fraumeni syndrome		833
HP:0009733	HP:0009733	Glioma	0	CHEK2 CL E G H	11200	16627	OMIM:609265	LI-FRAUMENI SYNDROME 2; LFS2		833
HP:0009733	HP:0009733	Glioma	0	EPCAM CL E G H	4072	11529	ORPHA:144	Lynch syndrome		170
HP:0009733	HP:0009733	Glioma	0	ERBB2 CL E G H	2064	3430	OMIM:137800	Glioma susceptibility 1		77
HP:0009733	HP:0009733	Glioma	0	FAN1 CL E G H	22909	29170	ORPHA:144	Lynch syndrome		15
HP:0009733	HP:0009733	Glioma	0	IDH1 CL E G H	3417	5382	OMIM:137800	Glioma susceptibility 1		15
HP:0009733	HP:0009733	Glioma	0	IDH1 CL E G H	3417	5382	ORPHA:163634	Maffucci syndrome		15
HP:0009733	HP:0009733	Glioma	0	IDH2 CL E G H	3418	5383	ORPHA:163634	Maffucci syndrome		29
HP:0009733	HP:0009733	Glioma	0	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex		23
HP:0009733	HP:0009733	Glioma	0	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2		23
HP:0009733	HP:0009733	Glioma	0	KRAS CL E G H	3845	6407	ORPHA:144	Lynch syndrome		196
HP:0009733	HP:0009733	Glioma	0	LRP5 CL E G H	4041	6697	OMIM:259770	Osteoporosis-Pseudoglioma syndrome	.	125
HP:0009733	HP:0009733	Glioma	0	MDM2 CL E G H	4193	6973	ORPHA:524	Li-Fraumeni syndrome		1
HP:0009733	HP:0009733	Glioma	0	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1		462
HP:0009733	HP:0009733	Glioma	0	MLH1 CL E G H	4292	7127	ORPHA:144	Lynch syndrome		1819
HP:0009733	HP:0009733	Glioma	0	MLH1 CL E G H	4292	7127	OMIM:276300	Mismatch repair cancer syndrome 1		1819
HP:0009733	HP:0009733	Glioma	0	MLH3 CL E G H	27030	7128	ORPHA:144	Lynch syndrome		131
HP:0009733	HP:0009733	Glioma	0	MSH2 CL E G H	4436	7325	ORPHA:144	Lynch syndrome		2162
HP:0009733	HP:0009733	Glioma	0	MSH2 CL E G H	4436	7325	OMIM:619096	MISMATCH REPAIR CANCER SYNDROME 2; MMRCS2		2162
HP:0009733	HP:0009733	Glioma	0	MSH3 CL E G H	4437	7326	OMIM:617100	Familial adenomatous polyposis 4		5
HP:0009733	HP:0009733	Glioma	0	MSH3 CL E G H	4437	7326	ORPHA:480536	MSH3-related attenuated familial adenomatous polyposis		5
HP:0009733	HP:0009733	Glioma	0	MSH6 CL E G H	2956	7329	ORPHA:144	Lynch syndrome		2232
HP:0009733	HP:0009733	Glioma	0	MSH6 CL E G H	2956	7329	OMIM:619097	MISMATCH REPAIR CANCER SYNDROME 3; MMRCS3		2232
HP:0009733	HP:0009733	Glioma	0	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome	.	706
HP:0009733	HP:0009733	Glioma	0	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome	HP:0040283 - Occasional	706
HP:0009733	HP:0009733	Glioma	0	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040283 - Occasional	1952
HP:0009733	HP:0009733	Glioma	0	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion		1952
HP:0009733	HP:0009733	Glioma	0	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I		1952
HP:0009733	HP:0009733	Glioma	0	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome		1952
HP:0009733	HP:0009733	Glioma	0	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2	HP:0040284 - Very rare	220
HP:0009733	HP:0009733	Glioma	0	NF2 CL E G H	4771	7773	OMIM:101000	Neurofibromatosis, type II		220
HP:0009733	HP:0009733	Glioma	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome		544
HP:0009733	HP:0009733	Glioma	0	PIK3CA CL E G H	5290	8975	ORPHA:144	Lynch syndrome		162
HP:0009733	HP:0009733	Glioma	0	PMS1 CL E G H	5378	9121	ORPHA:144	Lynch syndrome		56
HP:0009733	HP:0009733	Glioma	0	PMS2 CL E G H	5395	9122	ORPHA:144	Lynch syndrome		1121
HP:0009733	HP:0009733	Glioma	0	PMS2 CL E G H	5395	9122	OMIM:619101	MISMATCH REPAIR CANCER SYNDROME 4; MMRCS4		1121
HP:0009733	HP:0009733	Glioma	0	POT1 CL E G H	25913	17284	OMIM:616568	Glioma susceptibility 9	.	23
HP:0009733	HP:0009733	Glioma	0	RELA CL E G H	5970	9955	ORPHA:251636	Ependymoma		1
HP:0009733	HP:0009733	Glioma	0	RPS20 CL E G H	6224	10405	ORPHA:440437	Familial colorectal cancer Type X		1
HP:0009733	HP:0009733	Glioma	0	SEMA4A CL E G H	64218	10729	ORPHA:440437	Familial colorectal cancer Type X		48
HP:0009733	HP:0009733	Glioma	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome		143
HP:0009733	HP:0009733	Glioma	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome		60
HP:0009733	HP:0009733	Glioma	0	SMO CL E G H	6608	11119	OMIM:241800	Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included	.	22
HP:0009733	HP:0009733	Glioma	0	TGFBR2 CL E G H	7048	11773	ORPHA:144	Lynch syndrome		253
HP:0009733	HP:0009733	Glioma	0	TP53 CL E G H	7157	11998	OMIM:137800	Glioma susceptibility 1		911
HP:0009733	HP:0009733	Glioma	0	TP53 CL E G H	7157	11998	ORPHA:524	Li-Fraumeni syndrome		911
HP:0009733	HP:0009733	Glioma	0	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex		1090
HP:0009733	HP:0009733	Glioma	0	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1		1090
HP:0009733	HP:0009733	Glioma	0	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex		2738
HP:0009733	HP:0009733	Glioma	0	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2		2738
HP:0009733	HP:0009733	Glioma	0	ZFTA CL E G H	65998	28449	ORPHA:251636	Ependymoma
HP:0009733	HP:0009592	Astrocytoma	1	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli	.	3179
HP:0009733	HP:0009592	Astrocytoma	1	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis	HP:0040284 - Very rare	3179
HP:0009733	HP:0009592	Astrocytoma	1	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome	HP:0040284 - Very rare	3179
HP:0009733	HP:0009592	Astrocytoma	1	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis	HP:0040284 - Very rare	3179
HP:0009733	HP:0002888	Ependymoma	1	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis	HP:0040284 - Very rare	3179
HP:0009733	HP:0012174	Glioblastoma multiforme	1	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis	HP:0040284 - Very rare	3179
HP:0009733	HP:0009592	Astrocytoma	1	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	1
HP:0009733	HP:0012174	Glioblastoma multiforme	1	BMPR1A CL E G H	657	1076	ORPHA:440437	Familial colorectal cancer Type X	HP:0040281 - Very frequent	385
HP:0009733	HP:0009592	Astrocytoma	1	BRCA2 CL E G H	675	1101	OMIM:613029	Glioma susceptibility 3	.	7642
HP:0009733	HP:0012174	Glioblastoma multiforme	1	BRCA2 CL E G H	675	1101	OMIM:613029	Glioma susceptibility 3	.	7642
HP:0009733	HP:0002888	Ependymoma	1	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040284 - Very rare	2
HP:0009733	HP:0002888	Ependymoma	1	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040284 - Very rare	102
HP:0009733	HP:0002888	Ependymoma	1	CDKN2A CL E G H	1029	1787	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional	289
HP:0009733	HP:0009592	Astrocytoma	1	CDKN2A CL E G H	1029	1787	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional	289
HP:0009733	HP:0012174	Glioblastoma multiforme	1	CDKN2A CL E G H	1029	1787	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional	289
HP:0009733	HP:0009592	Astrocytoma	1	CDKN2A CL E G H	1029	1787	OMIM:155755	Melanoma-Astrocytoma syndrome	.	289
HP:0009733	HP:0002888	Ependymoma	1	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040284 - Very rare	1
HP:0009733	HP:0002888	Ependymoma	1	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040284 - Very rare
HP:0009733	HP:0009592	Astrocytoma	1	CHEK2 CL E G H	11200	16627	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional	833
HP:0009733	HP:0012174	Glioblastoma multiforme	1	CHEK2 CL E G H	11200	16627	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional	833
HP:0009733	HP:0002888	Ependymoma	1	CHEK2 CL E G H	11200	16627	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional	833
HP:0009733	HP:0012174	Glioblastoma multiforme	1	EPCAM CL E G H	4072	11529	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	170
HP:0009733	HP:0012174	Glioblastoma multiforme	1	ERBB2 CL E G H	2064	3430	OMIM:137800	Glioma susceptibility 1	.	77
HP:0009733	HP:0002888	Ependymoma	1	ERBB2 CL E G H	2064	3430	OMIM:137800	Glioma susceptibility 1	.	77
HP:0009733	HP:0009592	Astrocytoma	1	ERBB2 CL E G H	2064	3430	OMIM:137800	Glioma susceptibility 1	.	77
HP:0009733	HP:0012174	Glioblastoma multiforme	1	FAN1 CL E G H	22909	29170	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	15
HP:0009733	HP:0002888	Ependymoma	1	IDH1 CL E G H	3417	5382	OMIM:137800	Glioma susceptibility 1	.	15
HP:0009733	HP:0012174	Glioblastoma multiforme	1	IDH1 CL E G H	3417	5382	OMIM:137800	Glioma susceptibility 1	.	15
HP:0009733	HP:0009592	Astrocytoma	1	IDH1 CL E G H	3417	5382	OMIM:137800	Glioma susceptibility 1	.	15
HP:0009733	HP:0009592	Astrocytoma	1	IDH1 CL E G H	3417	5382	ORPHA:163634	Maffucci syndrome	HP:0040283 - Occasional	15
HP:0009733	HP:0009592	Astrocytoma	1	IDH2 CL E G H	3418	5383	ORPHA:163634	Maffucci syndrome	HP:0040283 - Occasional	29
HP:0009733	HP:0009592	Astrocytoma	1	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex		23
HP:0009733	HP:0009592	Astrocytoma	1	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2	.	23
HP:0009733	HP:0002888	Ependymoma	1	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2	.	23
HP:0009733	HP:0009734	Optic nerve glioma	1	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2	.	23
HP:0009733	HP:0012174	Glioblastoma multiforme	1	KRAS CL E G H	3845	6407	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	196
HP:0009733	HP:0002888	Ependymoma	1	MDM2 CL E G H	4193	6973	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional	1
HP:0009733	HP:0009592	Astrocytoma	1	MDM2 CL E G H	4193	6973	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional	1
HP:0009733	HP:0012174	Glioblastoma multiforme	1	MDM2 CL E G H	4193	6973	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional	1
HP:0009733	HP:0002888	Ependymoma	1	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040284 - Very rare	462
HP:0009733	HP:0012174	Glioblastoma multiforme	1	MLH1 CL E G H	4292	7127	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	1819
HP:0009733	HP:0009592	Astrocytoma	1	MLH1 CL E G H	4292	7127	OMIM:276300	Mismatch repair cancer syndrome 1		1819
HP:0009733	HP:0002888	Ependymoma	1	MLH1 CL E G H	4292	7127	OMIM:276300	Mismatch repair cancer syndrome 1	.	1819
HP:0009733	HP:0033681	Oligodendroglioma	1	MLH1 CL E G H	4292	7127	OMIM:276300	Mismatch repair cancer syndrome 1		1819
HP:0009733	HP:0012174	Glioblastoma multiforme	1	MLH1 CL E G H	4292	7127	OMIM:276300	Mismatch repair cancer syndrome 1		1819
HP:0009733	HP:0012174	Glioblastoma multiforme	1	MLH3 CL E G H	27030	7128	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	131
HP:0009733	HP:0012174	Glioblastoma multiforme	1	MSH2 CL E G H	4436	7325	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	2162
HP:0009733	HP:0012174	Glioblastoma multiforme	1	MSH2 CL E G H	4436	7325	OMIM:619096	MISMATCH REPAIR CANCER SYNDROME 2; MMRCS2		2162
HP:0009733	HP:0009592	Astrocytoma	1	MSH3 CL E G H	4437	7326	OMIM:617100	Familial adenomatous polyposis 4	.	5
HP:0009733	HP:0009592	Astrocytoma	1	MSH3 CL E G H	4437	7326	ORPHA:480536	MSH3-related attenuated familial adenomatous polyposis	HP:0040282 - Frequent	5
HP:0009733	HP:0012174	Glioblastoma multiforme	1	MSH6 CL E G H	2956	7329	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	2232
HP:0009733	HP:0012174	Glioblastoma multiforme	1	MSH6 CL E G H	2956	7329	OMIM:619097	MISMATCH REPAIR CANCER SYNDROME 3; MMRCS3		2232
HP:0009733	HP:0009592	Astrocytoma	1	MSH6 CL E G H	2956	7329	OMIM:619097	MISMATCH REPAIR CANCER SYNDROME 3; MMRCS3		2232
HP:0009733	HP:0010796	Brainstem glioma	1	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040283 - Occasional	1952
HP:0009733	HP:0009734	Optic nerve glioma	1	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040283 - Occasional	1952
HP:0009733	HP:0010795	Cerebellar glioma	1	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040283 - Occasional	1952
HP:0009733	HP:0009734	Optic nerve glioma	1	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion	HP:0040283 - Occasional	1952
HP:0009733	HP:0009592	Astrocytoma	1	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I	.	1952
HP:0009733	HP:0009734	Optic nerve glioma	1	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I		1952
HP:0009733	HP:0009734	Optic nerve glioma	1	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome		1952
HP:0009733	HP:0002888	Ependymoma	1	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2	HP:0040283 - Occasional	220
HP:0009733	HP:0009592	Astrocytoma	1	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2	HP:0040284 - Very rare	220
HP:0009733	HP:0009592	Astrocytoma	1	NF2 CL E G H	4771	7773	OMIM:101000	Neurofibromatosis, type II	.	220
HP:0009733	HP:0002888	Ependymoma	1	NF2 CL E G H	4771	7773	OMIM:101000	Neurofibromatosis, type II		220
HP:0009733	HP:0009592	Astrocytoma	1	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	544
HP:0009733	HP:0012174	Glioblastoma multiforme	1	PIK3CA CL E G H	5290	8975	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	162
HP:0009733	HP:0012174	Glioblastoma multiforme	1	PMS1 CL E G H	5378	9121	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	56
HP:0009733	HP:0012174	Glioblastoma multiforme	1	PMS2 CL E G H	5395	9122	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	1121
HP:0009733	HP:0009592	Astrocytoma	1	PMS2 CL E G H	5395	9122	OMIM:619101	MISMATCH REPAIR CANCER SYNDROME 4; MMRCS4		1121
HP:0009733	HP:0012174	Glioblastoma multiforme	1	PMS2 CL E G H	5395	9122	OMIM:619101	MISMATCH REPAIR CANCER SYNDROME 4; MMRCS4		1121
HP:0009733	HP:0009592	Astrocytoma	1	POT1 CL E G H	25913	17284	OMIM:616568	Glioma susceptibility 9	.	23
HP:0009733	HP:0002888	Ependymoma	1	RELA CL E G H	5970	9955	ORPHA:251636	Ependymoma	HP:0040280 - Obligate	1
HP:0009733	HP:0012174	Glioblastoma multiforme	1	RPS20 CL E G H	6224	10405	ORPHA:440437	Familial colorectal cancer Type X	HP:0040281 - Very frequent	1
HP:0009733	HP:0012174	Glioblastoma multiforme	1	SEMA4A CL E G H	64218	10729	ORPHA:440437	Familial colorectal cancer Type X	HP:0040281 - Very frequent	48
HP:0009733	HP:0002888	Ependymoma	1	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040284 - Very rare	143
HP:0009733	HP:0009592	Astrocytoma	1	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	60
HP:0009733	HP:0012174	Glioblastoma multiforme	1	TGFBR2 CL E G H	7048	11773	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	253
HP:0009733	HP:0002888	Ependymoma	1	TP53 CL E G H	7157	11998	OMIM:137800	Glioma susceptibility 1	.	911
HP:0009733	HP:0012174	Glioblastoma multiforme	1	TP53 CL E G H	7157	11998	OMIM:137800	Glioma susceptibility 1	.	911
HP:0009733	HP:0009592	Astrocytoma	1	TP53 CL E G H	7157	11998	OMIM:137800	Glioma susceptibility 1	.	911
HP:0009733	HP:0012174	Glioblastoma multiforme	1	TP53 CL E G H	7157	11998	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional	911
HP:0009733	HP:0009592	Astrocytoma	1	TP53 CL E G H	7157	11998	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional	911
HP:0009733	HP:0002888	Ependymoma	1	TP53 CL E G H	7157	11998	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional	911
HP:0009733	HP:0009592	Astrocytoma	1	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex		1090
HP:0009733	HP:0009592	Astrocytoma	1	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1	.	1090
HP:0009733	HP:0009734	Optic nerve glioma	1	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1	.	1090
HP:0009733	HP:0002888	Ependymoma	1	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1	.	1090
HP:0009733	HP:0009592	Astrocytoma	1	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex		2738
HP:0009733	HP:0002888	Ependymoma	1	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2	.	2738
HP:0009733	HP:0009592	Astrocytoma	1	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2	.	2738
HP:0009733	HP:0009734	Optic nerve glioma	1	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2	.	2738
HP:0009733	HP:0002888	Ependymoma	1	ZFTA CL E G H	65998	28449	ORPHA:251636	Ependymoma	HP:0040280 - Obligate
HP:0009733	HP:0033680	Pilocytic astrocytoma	2	CL E G H
HP:0009733	HP:0009718	Subependymal giant-cell astrocytoma	2	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex	HP:0040283 - Occasional	23
HP:0009733	HP:0009718	Subependymal giant-cell astrocytoma	2	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2		23
HP:0009733	HP:0033682	Pleomorphic xanthoastrocytoma	2	MLH1 CL E G H	4292	7127	OMIM:276300	Mismatch repair cancer syndrome 1		1819
HP:0009733	HP:0009718	Subependymal giant-cell astrocytoma	2	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex	HP:0040283 - Occasional	1090
HP:0009733	HP:0009718	Subependymal giant-cell astrocytoma	2	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex	HP:0040283 - Occasional	2738
HP:0009733	HP:0009718	Subependymal giant-cell astrocytoma	2	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2		2738