Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	Source	Typical association	HGMD variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0100012	HP:0100012	Neoplasm of the eye	0	NDP CL E G H	4693	649		ORPHA	1	167	7678	300658
HP:0100012	HP:0100012	Neoplasm of the eye	1	NDP CL E G H	4693	649		ORPHA	1	167	7678	300658
HP:0100012	HP:0100012	Neoplasm of the eye	2	NDP CL E G H	4693	649		ORPHA	1	167	7678	300658
HP:0100012	HP:0100012	Neoplasm of the eye	3	NDP CL E G H	4693	649		ORPHA	1	167	7678	300658
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100012	HP:0100012	Neoplasm of the eye	0	DDB2 CL E G H	1643	910	Blepharoptosis aortic anomaly	ORPHA	0	17	2718	600811
HP:0100012	HP:0100012	Neoplasm of the eye	0	ERCC2 CL E G H	2068	910	Blepharoptosis aortic anomaly	ORPHA	0	108	3434	126340
HP:0100012	HP:0100012	Neoplasm of the eye	0	ERCC3 CL E G H	2071	910	Blepharoptosis aortic anomaly	ORPHA	0	20	3435	133510
HP:0100012	HP:0100012	Neoplasm of the eye	0	ERCC4 CL E G H	2072	910	Blepharoptosis aortic anomaly	ORPHA	0	72	3436	133520
HP:0100012	HP:0100012	Neoplasm of the eye	0	ERCC5 CL E G H	2073	910	Blepharoptosis aortic anomaly	ORPHA	0	59	3437	133530
HP:0100012	HP:0100012	Neoplasm of the eye	0	XPA CL E G H	7507	910	Blepharoptosis aortic anomaly	ORPHA	0	51	12814	611153
HP:0100012	HP:0100012	Neoplasm of the eye	0	XPC CL E G H	7508	910	Blepharoptosis aortic anomaly	ORPHA	0	100	12816	613208
HP:0100012	HP:0100012	Neoplasm of the eye	1	DDB2 CL E G H	1643	910	Blepharoptosis aortic anomaly	ORPHA	0	17	2718	600811
HP:0100012	HP:0100012	Neoplasm of the eye	1	ERCC2 CL E G H	2068	910	Blepharoptosis aortic anomaly	ORPHA	0	108	3434	126340
HP:0100012	HP:0100012	Neoplasm of the eye	1	ERCC3 CL E G H	2071	910	Blepharoptosis aortic anomaly	ORPHA	0	20	3435	133510
HP:0100012	HP:0100012	Neoplasm of the eye	1	ERCC4 CL E G H	2072	910	Blepharoptosis aortic anomaly	ORPHA	0	72	3436	133520
HP:0100012	HP:0100012	Neoplasm of the eye	1	ERCC5 CL E G H	2073	910	Blepharoptosis aortic anomaly	ORPHA	0	59	3437	133530
HP:0100012	HP:0100012	Neoplasm of the eye	1	XPA CL E G H	7507	910	Blepharoptosis aortic anomaly	ORPHA	0	51	12814	611153
HP:0100012	HP:0100012	Neoplasm of the eye	1	XPC CL E G H	7508	910	Blepharoptosis aortic anomaly	ORPHA	0	100	12816	613208
HP:0100012	HP:0100012	Neoplasm of the eye	2	DDB2 CL E G H	1643	910	Blepharoptosis aortic anomaly	ORPHA	0	17	2718	600811
HP:0100012	HP:0100012	Neoplasm of the eye	2	ERCC2 CL E G H	2068	910	Blepharoptosis aortic anomaly	ORPHA	0	108	3434	126340
HP:0100012	HP:0100012	Neoplasm of the eye	2	ERCC3 CL E G H	2071	910	Blepharoptosis aortic anomaly	ORPHA	0	20	3435	133510
HP:0100012	HP:0100012	Neoplasm of the eye	2	ERCC4 CL E G H	2072	910	Blepharoptosis aortic anomaly	ORPHA	0	72	3436	133520
HP:0100012	HP:0100012	Neoplasm of the eye	2	ERCC5 CL E G H	2073	910	Blepharoptosis aortic anomaly	ORPHA	0	59	3437	133530
HP:0100012	HP:0100012	Neoplasm of the eye	2	XPA CL E G H	7507	910	Blepharoptosis aortic anomaly	ORPHA	0	51	12814	611153
HP:0100012	HP:0100012	Neoplasm of the eye	2	XPC CL E G H	7508	910	Blepharoptosis aortic anomaly	ORPHA	0	100	12816	613208
HP:0100012	HP:0100012	Neoplasm of the eye	3	DDB2 CL E G H	1643	910	Blepharoptosis aortic anomaly	ORPHA	0	17	2718	600811
HP:0100012	HP:0100012	Neoplasm of the eye	3	ERCC2 CL E G H	2068	910	Blepharoptosis aortic anomaly	ORPHA	0	108	3434	126340
HP:0100012	HP:0100012	Neoplasm of the eye	3	ERCC3 CL E G H	2071	910	Blepharoptosis aortic anomaly	ORPHA	0	20	3435	133510
HP:0100012	HP:0100012	Neoplasm of the eye	3	ERCC4 CL E G H	2072	910	Blepharoptosis aortic anomaly	ORPHA	0	72	3436	133520
HP:0100012	HP:0100012	Neoplasm of the eye	3	ERCC5 CL E G H	2073	910	Blepharoptosis aortic anomaly	ORPHA	0	59	3437	133530
HP:0100012	HP:0100012	Neoplasm of the eye	3	XPA CL E G H	7507	910	Blepharoptosis aortic anomaly	ORPHA	0	51	12814	611153
HP:0100012	HP:0100012	Neoplasm of the eye	3	XPC CL E G H	7508	910	Blepharoptosis aortic anomaly	ORPHA	0	100	12816	613208