Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0001031	HP:0001031	Subcutaneous lipoma	0	AKT1 CL E G H	207	615109	Cowden syndrome 6	615109	C3554519	OMIM	1	417	391	164730
HP:0001031	HP:0001031	Subcutaneous lipoma	0	AKT1 CL E G H	207	615109	Cowden syndrome 6	615109	C3554519	OMIM	1	380	391	164730
HP:0001031	HP:0001031	Subcutaneous lipoma	0	CDKN1A CL E G H	1026	652	Amebiasis			ORPHA	1	16	1784	116899
HP:0001031	HP:0001031	Subcutaneous lipoma	0	CDKN1B CL E G H	1027	276152				ORPHA	1	507	1785	600778
HP:0001031	HP:0001031	Subcutaneous lipoma	0	CDKN1B CL E G H	1027	276152				ORPHA	1	596	1785	600778
HP:0001031	HP:0001031	Subcutaneous lipoma	0	CDKN1B CL E G H	1027	652	Amebiasis			ORPHA	1	507	1785	600778
HP:0001031	HP:0001031	Subcutaneous lipoma	0	CDKN1B CL E G H	1027	652	Amebiasis			ORPHA	1	596	1785	600778
HP:0001031	HP:0001031	Subcutaneous lipoma	0	CDKN2B CL E G H	1030	652	Amebiasis			ORPHA	1	99	1788	600431
HP:0001031	HP:0001031	Subcutaneous lipoma	0	CDKN2B CL E G H	1030	652	Amebiasis			ORPHA	1	101	1788	600431
HP:0001031	HP:0001031	Subcutaneous lipoma	0	CDKN2C CL E G H	1031	652	Amebiasis			ORPHA	1	16	1789	603369
HP:0001031	HP:0001031	Subcutaneous lipoma	0	CDKN2C CL E G H	1031	652	Amebiasis			ORPHA	1	17	1789	603369
HP:0001031	HP:0001031	Subcutaneous lipoma	0	FGFR1 CL E G H	2260	613001	Encephalocraniocutaneous lipomatosis	613001	C0406612	OMIM	1	597	3688	136350
HP:0001031	HP:0001031	Subcutaneous lipoma	0	FGFR1 CL E G H	2260	613001	Encephalocraniocutaneous lipomatosis	613001	C0406612	OMIM	1	530	3688	136350
HP:0001031	HP:0001031	Subcutaneous lipoma	0	MEN1 CL E G H	4221	652	Amebiasis			ORPHA	1	1411	7010	613733
HP:0001031	HP:0001031	Subcutaneous lipoma	0	MEN1 CL E G H	4221	652	Amebiasis			ORPHA	1	1559	7010	613733
HP:0001031	HP:0001031	Subcutaneous lipoma	0	MEN1 CL E G H	4221	131100	Multiple endocrine neoplasia, type 1	131100	C0025267	OMIM	1	1559	7010	613733
HP:0001031	HP:0001031	Subcutaneous lipoma	0	MEN1 CL E G H	4221	131100	Multiple endocrine neoplasia, type 1	131100	C0025267	OMIM	1	1411	7010	613733
HP:0001031	HP:0001031	Subcutaneous lipoma	0	PIK3CA CL E G H	5290	615108	Cowden syndrome 5	615108	C3554518	OMIM	1	613	8975	171834
HP:0001031	HP:0001031	Subcutaneous lipoma	0	PIK3CA CL E G H	5290	615108	Cowden syndrome 5	615108	C3554518	OMIM	1	544	8975	171834
HP:0001031	HP:0001031	Subcutaneous lipoma	0	PTEN CL E G H	5728	2969				ORPHA	1	2246	9588	601728
HP:0001031	HP:0001031	Subcutaneous lipoma	0	PTEN CL E G H	5728	2969				ORPHA	1	2416	9588	601728
HP:0001031	HP:0001031	Subcutaneous lipoma	0	PTEN CL E G H	5728	158350	Cowden syndrome 1	158350	CN072330	OMIM	1	2416	9588	601728
HP:0001031	HP:0001031	Subcutaneous lipoma	0	PTEN CL E G H	5728	158350	Cowden syndrome 1	158350	CN072330	OMIM	1	2246	9588	601728
HP:0001031	HP:0007596	Painful subcutaneous lipomas	1	AKT1 CL E G H	207	615109	Cowden syndrome 6	615109	C3554519	OMIM	1	380	391	164730
HP:0001031	HP:0007596	Painful subcutaneous lipomas	1	AKT1 CL E G H	207	615109	Cowden syndrome 6	615109	C3554519	OMIM	1	417	391	164730
HP:0001031	HP:0007596	Painful subcutaneous lipomas	1	CDKN1A CL E G H	1026	652	Amebiasis			ORPHA	1	16	1784	116899
HP:0001031	HP:0007596	Painful subcutaneous lipomas	1	CDKN1B CL E G H	1027	276152				ORPHA	1	596	1785	600778
HP:0001031	HP:0007596	Painful subcutaneous lipomas	1	CDKN1B CL E G H	1027	276152				ORPHA	1	507	1785	600778
HP:0001031	HP:0007596	Painful subcutaneous lipomas	1	CDKN1B CL E G H	1027	652	Amebiasis			ORPHA	1	596	1785	600778
HP:0001031	HP:0007596	Painful subcutaneous lipomas	1	CDKN1B CL E G H	1027	652	Amebiasis			ORPHA	1	507	1785	600778
HP:0001031	HP:0007596	Painful subcutaneous lipomas	1	CDKN2B CL E G H	1030	652	Amebiasis			ORPHA	1	101	1788	600431
HP:0001031	HP:0007596	Painful subcutaneous lipomas	1	CDKN2B CL E G H	1030	652	Amebiasis			ORPHA	1	99	1788	600431
HP:0001031	HP:0007596	Painful subcutaneous lipomas	1	CDKN2C CL E G H	1031	652	Amebiasis			ORPHA	1	17	1789	603369
HP:0001031	HP:0007596	Painful subcutaneous lipomas	1	CDKN2C CL E G H	1031	652	Amebiasis			ORPHA	1	16	1789	603369
HP:0001031	HP:0007596	Painful subcutaneous lipomas	1	FGFR1 CL E G H	2260	613001	Encephalocraniocutaneous lipomatosis	613001	C0406612	OMIM	1	530	3688	136350
HP:0001031	HP:0007596	Painful subcutaneous lipomas	1	FGFR1 CL E G H	2260	613001	Encephalocraniocutaneous lipomatosis	613001	C0406612	OMIM	1	597	3688	136350
HP:0001031	HP:0007596	Painful subcutaneous lipomas	1	MEN1 CL E G H	4221	652	Amebiasis			ORPHA	1	1559	7010	613733
HP:0001031	HP:0007596	Painful subcutaneous lipomas	1	MEN1 CL E G H	4221	652	Amebiasis			ORPHA	1	1411	7010	613733
HP:0001031	HP:0007596	Painful subcutaneous lipomas	1	MEN1 CL E G H	4221	131100	Multiple endocrine neoplasia, type 1	131100	C0025267	OMIM	1	1411	7010	613733
HP:0001031	HP:0007596	Painful subcutaneous lipomas	1	MEN1 CL E G H	4221	131100	Multiple endocrine neoplasia, type 1	131100	C0025267	OMIM	1	1559	7010	613733
HP:0001031	HP:0007596	Painful subcutaneous lipomas	1	PIK3CA CL E G H	5290	615108	Cowden syndrome 5	615108	C3554518	OMIM	1	544	8975	171834
HP:0001031	HP:0007596	Painful subcutaneous lipomas	1	PIK3CA CL E G H	5290	615108	Cowden syndrome 5	615108	C3554518	OMIM	1	613	8975	171834
HP:0001031	HP:0007596	Painful subcutaneous lipomas	1	PTEN CL E G H	5728	2969				ORPHA	1	2416	9588	601728
HP:0001031	HP:0007596	Painful subcutaneous lipomas	1	PTEN CL E G H	5728	2969				ORPHA	1	2246	9588	601728
HP:0001031	HP:0007596	Painful subcutaneous lipomas	1	PTEN CL E G H	5728	158350	Cowden syndrome 1	158350	CN072330	OMIM	1	2246	9588	601728
HP:0001031	HP:0007596	Painful subcutaneous lipomas	1	PTEN CL E G H	5728	158350	Cowden syndrome 1	158350	CN072330	OMIM	1	2416	9588	601728
HPO disease - gene - phenotype less frequent non-typical associations: