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:0001067	HP:0001067	Neurofibromas	0	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040283 - Occasional	54
HP:0001067	HP:0001067	Neurofibromas	0	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040283 - Occasional	184
HP:0001067	HP:0001067	Neurofibromas	0	KIT CL E G H	3815	6342	OMIM:606764	Gastrointestinal stromal tumor	.	327
HP:0001067	HP:0001067	Neurofibromas	0	LRP1 CL E G H	4035	6692	ORPHA:79100	Atrophoderma vermiculata	HP:0040283 - Occasional	4
HP:0001067	HP:0001067	Neurofibromas	0	MLH1 CL E G H	4292	7127	OMIM:276300	Mismatch repair cancer syndrome 1		1819
HP:0001067	HP:0001067	Neurofibromas	0	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome		1952
HP:0001067	HP:0001067	Neurofibromas	0	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion		1952
HP:0001067	HP:0001067	Neurofibromas	0	NF1 CL E G H	4763	7765	OMIM:162210	Neurofibromatosis, familial spinal		1952
HP:0001067	HP:0001067	Neurofibromas	0	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I		1952
HP:0001067	HP:0001067	Neurofibromas	0	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome		1952
HP:0001067	HP:0001067	Neurofibromas	0	NF1 CL E G H	4763	7765	OMIM:193520	Watson syndrome	.	1952
HP:0001067	HP:0001067	Neurofibromas	0	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040283 - Occasional	220
HP:0001067	HP:0001067	Neurofibromas	0	NF2 CL E G H	4771	7773	OMIM:101000	Neurofibromatosis, type II		220
HP:0001067	HP:0001067	Neurofibromas	0	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040283 - Occasional	9
HP:0001067	HP:0001067	Neurofibromas	0	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040283 - Occasional	162
HP:0001067	HP:0001067	Neurofibromas	0	SDHB CL E G H	6390	10681	OMIM:606764	Gastrointestinal stromal tumor	.	237
HP:0001067	HP:0001067	Neurofibromas	0	SDHC CL E G H	6391	10682	OMIM:606764	Gastrointestinal stromal tumor	.	147
HP:0001067	HP:0001067	Neurofibromas	0	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040283 - Occasional	87
HP:0001067	HP:0001067	Neurofibromas	0	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040283 - Occasional	47
HP:0001067	HP:0001067	Neurofibromas	0	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040283 - Occasional	22
HP:0001067	HP:0001067	Neurofibromas	0	SPRED1 CL E G H	161742	20249	OMIM:611431	Legius syndrome	.	136
HP:0001067	HP:0001067	Neurofibromas	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0001067	HP:0001067	Neurofibromas	0	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040283 - Occasional	124
HP:0001067	HP:0001067	Neurofibromas	0	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040283 - Occasional	238
HP:0001067	HP:0001067	Neurofibromas	0	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040283 - Occasional
HP:0001067	HP:0005220	Multiple intestinal neurofibromatosis	1	CL E G H
HP:0001067	HP:0007576	Palmar neurofibromas	1	CL E G H
HP:0001067	HP:0006751	Paraspinal neurofibromas	1	CL E G H
HP:0001067	HP:0009732	Plexiform neurofibroma	1	MLH1 CL E G H	4292	7127	OMIM:276300	Mismatch repair cancer syndrome 1		1819
HP:0001067	HP:0007524	Atypical neurofibromatosis	1	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040283 - Occasional	1952
HP:0001067	HP:0009732	Plexiform neurofibroma	1	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040282 - Frequent	1952
HP:0001067	HP:0009735	Spinal neurofibromas	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:0001067	HP:0100698	Subcutaneous neurofibromas	1	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion	HP:0040282 - Frequent	1952
HP:0001067	HP:0009732	Plexiform neurofibroma	1	NF1 CL E G H	4763	7765	OMIM:162210	Neurofibromatosis, familial spinal		1952
HP:0001067	HP:0009735	Spinal neurofibromas	1	NF1 CL E G H	4763	7765	OMIM:162210	Neurofibromatosis, familial spinal		1952
HP:0001067	HP:0009732	Plexiform neurofibroma	1	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I		1952
HP:0001067	HP:0009735	Spinal neurofibromas	1	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I		1952
HP:0001067	HP:0009732	Plexiform neurofibroma	1	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome		1952
HP:0001067	HP:0009595	Occasional neurofibromas	1	NF2 CL E G H	4771	7773	OMIM:101000	Neurofibromatosis, type II	HP:0040283 - Occasional	220
HP:0001067	HP:0006851	Symmetric spinal nerve root neurofibromas	2	NF1 CL E G H	4763	7765	OMIM:162210	Neurofibromatosis, familial spinal	.	1952