Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	ConceptID	Source	Typical association	HGMD variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0100013	HP:0100013	Neoplasm of the breast	0	LMNA CL E G H	4000	79474			ORPHA	1	574	6636	150330
HP:0100013	HP:0100013	Neoplasm of the breast	0	PTEN CL E G H	5728	109	Bannayan-Riley-Ruvalcaba syndrome	C0265326	ORPHA	1	658	9588	601728
HP:0100013	HP:0100013	Neoplasm of the breast	1	LMNA CL E G H	4000	79474			ORPHA	1	574	6636	150330
HP:0100013	HP:0100013	Neoplasm of the breast	1	PTEN CL E G H	5728	109	Bannayan-Riley-Ruvalcaba syndrome	C0265326	ORPHA	1	658	9588	601728
HP:0100013	HP:0100013	Neoplasm of the breast	2	LMNA CL E G H	4000	79474			ORPHA	1	574	6636	150330
HP:0100013	HP:0100013	Neoplasm of the breast	2	PTEN CL E G H	5728	109	Bannayan-Riley-Ruvalcaba syndrome	C0265326	ORPHA	1	658	9588	601728
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100013	HP:0100013	Neoplasm of the breast	0	ACD CL E G H	65057	618			ORPHA	0	9	25070	609377
HP:0100013	HP:0100013	Neoplasm of the breast	0	BAP1 CL E G H	8314	618			ORPHA	0	119	950	603089
HP:0100013	HP:0100013	Neoplasm of the breast	0	C11orf95 CL E G H	65998	251636			ORPHA	0		28449	615699
HP:0100013	HP:0100013	Neoplasm of the breast	0	CDK4 CL E G H	1019	618			ORPHA	0	18	1773	123829
HP:0100013	HP:0100013	Neoplasm of the breast	0	CDKN2A CL E G H	1029	618			ORPHA	0	243	1787	600160
HP:0100013	HP:0100013	Neoplasm of the breast	0	CDKN2B CL E G H	1030	618			ORPHA	0	14	1788	600431
HP:0100013	HP:0100013	Neoplasm of the breast	0	CDKN2D CL E G H	1032	618			ORPHA	0		1790	600927
HP:0100013	HP:0100013	Neoplasm of the breast	0	GNAS CL E G H	2778	562			ORPHA	0	279	4392	139320
HP:0100013	HP:0100013	Neoplasm of the breast	0	MC1R CL E G H	4157	618			ORPHA	0	109	6929	155555
HP:0100013	HP:0100013	Neoplasm of the breast	0	MGMT CL E G H	4255	618			ORPHA	0	9	7059	156569
HP:0100013	HP:0100013	Neoplasm of the breast	0	MITF CL E G H	4286	618			ORPHA	0	61	7105	156845
HP:0100013	HP:0100013	Neoplasm of the breast	0	POT1 CL E G H	25913	618			ORPHA	0	42	17284	606478
HP:0100013	HP:0100013	Neoplasm of the breast	0	PTEN CL E G H	5728	137608			ORPHA	0	658	9588	601728
HP:0100013	HP:0100013	Neoplasm of the breast	0	RELA CL E G H	5970	251636			ORPHA	0	3	9955	164014
HP:0100013	HP:0100013	Neoplasm of the breast	0	TERF2IP CL E G H	54386	618			ORPHA	0	6	19246	605061
HP:0100013	HP:0100013	Neoplasm of the breast	0	TERT CL E G H	7015	618			ORPHA	0	173	11730	187270
HP:0100013	HP:0100013	Neoplasm of the breast	1	ACD CL E G H	65057	618			ORPHA	0	9	25070	609377
HP:0100013	HP:0100013	Neoplasm of the breast	1	BAP1 CL E G H	8314	618			ORPHA	0	119	950	603089
HP:0100013	HP:0100013	Neoplasm of the breast	1	C11orf95 CL E G H	65998	251636			ORPHA	0		28449	615699
HP:0100013	HP:0100013	Neoplasm of the breast	1	CDK4 CL E G H	1019	618			ORPHA	0	18	1773	123829
HP:0100013	HP:0100013	Neoplasm of the breast	1	CDKN2A CL E G H	1029	618			ORPHA	0	243	1787	600160
HP:0100013	HP:0100013	Neoplasm of the breast	1	CDKN2B CL E G H	1030	618			ORPHA	0	14	1788	600431
HP:0100013	HP:0100013	Neoplasm of the breast	1	CDKN2D CL E G H	1032	618			ORPHA	0		1790	600927
HP:0100013	HP:0100013	Neoplasm of the breast	1	GNAS CL E G H	2778	562			ORPHA	0	279	4392	139320
HP:0100013	HP:0100013	Neoplasm of the breast	1	MC1R CL E G H	4157	618			ORPHA	0	109	6929	155555
HP:0100013	HP:0100013	Neoplasm of the breast	1	MGMT CL E G H	4255	618			ORPHA	0	9	7059	156569
HP:0100013	HP:0100013	Neoplasm of the breast	1	MITF CL E G H	4286	618			ORPHA	0	61	7105	156845
HP:0100013	HP:0100013	Neoplasm of the breast	1	POT1 CL E G H	25913	618			ORPHA	0	42	17284	606478
HP:0100013	HP:0100013	Neoplasm of the breast	1	PTEN CL E G H	5728	137608			ORPHA	0	658	9588	601728
HP:0100013	HP:0100013	Neoplasm of the breast	1	RELA CL E G H	5970	251636			ORPHA	0	3	9955	164014
HP:0100013	HP:0100013	Neoplasm of the breast	1	TERF2IP CL E G H	54386	618			ORPHA	0	6	19246	605061
HP:0100013	HP:0100013	Neoplasm of the breast	1	TERT CL E G H	7015	618			ORPHA	0	173	11730	187270
HP:0100013	HP:0100013	Neoplasm of the breast	2	ACD CL E G H	65057	618			ORPHA	0	9	25070	609377
HP:0100013	HP:0100013	Neoplasm of the breast	2	BAP1 CL E G H	8314	618			ORPHA	0	119	950	603089
HP:0100013	HP:0100013	Neoplasm of the breast	2	C11orf95 CL E G H	65998	251636			ORPHA	0		28449	615699
HP:0100013	HP:0100013	Neoplasm of the breast	2	CDK4 CL E G H	1019	618			ORPHA	0	18	1773	123829
HP:0100013	HP:0100013	Neoplasm of the breast	2	CDKN2A CL E G H	1029	618			ORPHA	0	243	1787	600160
HP:0100013	HP:0100013	Neoplasm of the breast	2	CDKN2B CL E G H	1030	618			ORPHA	0	14	1788	600431
HP:0100013	HP:0100013	Neoplasm of the breast	2	CDKN2D CL E G H	1032	618			ORPHA	0		1790	600927
HP:0100013	HP:0100013	Neoplasm of the breast	2	GNAS CL E G H	2778	562			ORPHA	0	279	4392	139320
HP:0100013	HP:0100013	Neoplasm of the breast	2	MC1R CL E G H	4157	618			ORPHA	0	109	6929	155555
HP:0100013	HP:0100013	Neoplasm of the breast	2	MGMT CL E G H	4255	618			ORPHA	0	9	7059	156569
HP:0100013	HP:0100013	Neoplasm of the breast	2	MITF CL E G H	4286	618			ORPHA	0	61	7105	156845
HP:0100013	HP:0100013	Neoplasm of the breast	2	POT1 CL E G H	25913	618			ORPHA	0	42	17284	606478
HP:0100013	HP:0100013	Neoplasm of the breast	2	PTEN CL E G H	5728	137608			ORPHA	0	658	9588	601728
HP:0100013	HP:0100013	Neoplasm of the breast	2	RELA CL E G H	5970	251636			ORPHA	0	3	9955	164014
HP:0100013	HP:0100013	Neoplasm of the breast	2	TERF2IP CL E G H	54386	618			ORPHA	0	6	19246	605061
HP:0100013	HP:0100013	Neoplasm of the breast	2	TERT CL E G H	7015	618			ORPHA	0	173	11730	187270