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:0010816	HP:0010816	Epidermal nevus	0	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040281 - Very frequent	54
HP:0010816	HP:0010816	Epidermal nevus	0	AKT1 CL E G H	207	391	OMIM:176920	Proteus syndrome, somatic	.	54
HP:0010816	HP:0010816	Epidermal nevus	0	BRAF CL E G H	673	1097	ORPHA:840	Syringocystadenoma papilliferum		276
HP:0010816	HP:0010816	Epidermal nevus	0	HRAS CL E G H	3265	5173	ORPHA:2874	Phakomatosis pigmentokeratotica		113
HP:0010816	HP:0010816	Epidermal nevus	0	HRAS CL E G H	3265	5173	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome		113
HP:0010816	HP:0010816	Epidermal nevus	0	KRAS CL E G H	3845	6407	OMIM:600268	Oculoectodermal syndrome	.	196
HP:0010816	HP:0010816	Epidermal nevus	0	KRAS CL E G H	3845	6407	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome		196
HP:0010816	HP:0010816	Epidermal nevus	0	NEK9 CL E G H	91754	18591	OMIM:617025	NEVUS COMEDONICUS; NC		9
HP:0010816	HP:0010816	Epidermal nevus	0	NRAS CL E G H	4893	7989	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome		102
HP:0010816	HP:0010816	Epidermal nevus	0	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects		34
HP:0010816	HP:0010816	Epidermal nevus	0	PIK3CA CL E G H	5290	8975	OMIM:182000	KERATOSIS, SEBORRHEIC		162
HP:0010816	HP:0010816	Epidermal nevus	0	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040281 - Very frequent	948
HP:0010816	HP:0010816	Epidermal nevus	0	PTEN CL E G H	5728	9588	ORPHA:2969	Proteus-like syndrome	HP:0040281 - Very frequent	948
HP:0010816	HP:0010816	Epidermal nevus	0	SMO CL E G H	6608	11119	OMIM:601707	Curry-Jones syndrome		22
HP:0010816	HP:0034275	Verrucous epidermal nevus	1	CL E G H
HP:0010816	HP:0010815	Nevus sebaceous	1	BRAF CL E G H	673	1097	ORPHA:840	Syringocystadenoma papilliferum	HP:0040283 - Occasional	276
HP:0010816	HP:0010815	Nevus sebaceous	1	HRAS CL E G H	3265	5173	ORPHA:2874	Phakomatosis pigmentokeratotica		113
HP:0010816	HP:0010815	Nevus sebaceous	1	HRAS CL E G H	3265	5173	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.	113
HP:0010816	HP:0010815	Nevus sebaceous	1	KRAS CL E G H	3845	6407	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.	196
HP:0010816	HP:0020154	Nevus comedonicus	1	NEK9 CL E G H	91754	18591	OMIM:617025	NEVUS COMEDONICUS; NC		9
HP:0010816	HP:0010815	Nevus sebaceous	1	NRAS CL E G H	4893	7989	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.	102
HP:0010816	HP:0010815	Nevus sebaceous	1	SMO CL E G H	6608	11119	OMIM:601707	Curry-Jones syndrome		22
HP:0010816	HP:0010817	Linear nevus sebaceous	2	HRAS CL E G H	3265	5173	ORPHA:2874	Phakomatosis pigmentokeratotica		113
HP:0010816	HP:0010817	Linear nevus sebaceous	2	HRAS CL E G H	3265	5173	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.	113
HP:0010816	HP:0010817	Linear nevus sebaceous	2	KRAS CL E G H	3845	6407	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.	196
HP:0010816	HP:0010817	Linear nevus sebaceous	2	NRAS CL E G H	4893	7989	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.	102