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:0012056	HP:0012056	Cutaneous melanoma	0	BAP1 CL E G H	8314	614327	Tumor susceptibility linked to germline BAP1 mutations	614327	C3280492	OMIM	1	1683	950	603089
HP:0012056	HP:0012056	Cutaneous melanoma	0	BAP1 CL E G H	8314	614327	Tumor susceptibility linked to germline BAP1 mutations	614327	C3280492	OMIM	1	1514	950	603089
HP:0012056	HP:0012056	Cutaneous melanoma	0	CDKN2A CL E G H	1029	155755	Melanoma astrocytoma syndrome	155755	C1835042	OMIM	1	1062	1787	600160
HP:0012056	HP:0012056	Cutaneous melanoma	0	CDKN2A CL E G H	1029	155755	Melanoma astrocytoma syndrome	155755	C1835042	OMIM	1	971	1787	600160
HP:0012056	HP:0012056	Cutaneous melanoma	0	ERCC3 CL E G H	2071	610651	Xeroderma pigmentosum, complementation group b	610651	C1970808	OMIM	1	186	3435	133510
HP:0012056	HP:0012056	Cutaneous melanoma	0	ERCC3 CL E G H	2071	610651	Xeroderma pigmentosum, complementation group b	610651	C1970808	OMIM	1	283	3435	133510
HP:0012056	HP:0012056	Cutaneous melanoma	0	HRAS CL E G H	3265	137550	Congenital giant melanocytic nevus	137550	C1842036	OMIM	1	467	5173	190020
HP:0012056	HP:0012056	Cutaneous melanoma	0	HRAS CL E G H	3265	137550	Congenital giant melanocytic nevus	137550	C1842036	OMIM	1	411	5173	190020
HP:0012056	HP:0012056	Cutaneous melanoma	0	NRAS CL E G H	4893	137550	Congenital giant melanocytic nevus	137550	C1842036	OMIM	1	212	7989	164790
HP:0012056	HP:0012056	Cutaneous melanoma	0	NRAS CL E G H	4893	137550	Congenital giant melanocytic nevus	137550	C1842036	OMIM	1	226	7989	164790
HP:0012056	HP:0012056	Cutaneous melanoma	0	POLH CL E G H	5429	278750	Xeroderma pigmentosum, variant type	278750	C1848410	OMIM	1	307	9181	603968
HP:0012056	HP:0012056	Cutaneous melanoma	0	POLH CL E G H	5429	278750	Xeroderma pigmentosum, variant type	278750	C1848410	OMIM	1	303	9181	603968
HP:0012056	HP:0012056	Cutaneous melanoma	0	XPC CL E G H	7508	278720	Xeroderma pigmentosum, group C	278720	C2752147	OMIM	1	518	12816	613208
HP:0012056	HP:0012056	Cutaneous melanoma	0	XPC CL E G H	7508	278720	Xeroderma pigmentosum, group C	278720	C2752147	OMIM	1	545	12816	613208
HP:0012056	HP:0012059	Lentigo maligna melanoma	1	BAP1 CL E G H	8314	614327	Tumor susceptibility linked to germline BAP1 mutations	614327	C3280492	OMIM	1	1514	950	603089
HP:0012056	HP:0012057	Superficial spreading melanoma	1	BAP1 CL E G H	8314	614327	Tumor susceptibility linked to germline BAP1 mutations	614327	C3280492	OMIM	1	1514	950	603089
HP:0012056	HP:0012060	Acral lentiginous melanoma	1	BAP1 CL E G H	8314	614327	Tumor susceptibility linked to germline BAP1 mutations	614327	C3280492	OMIM	1	1683	950	603089
HP:0012056	HP:0012058	Nodular melanoma	1	BAP1 CL E G H	8314	614327	Tumor susceptibility linked to germline BAP1 mutations	614327	C3280492	OMIM	1	1683	950	603089
HP:0012056	HP:0012058	Nodular melanoma	1	BAP1 CL E G H	8314	614327	Tumor susceptibility linked to germline BAP1 mutations	614327	C3280492	OMIM	1	1514	950	603089
HP:0012056	HP:0012060	Acral lentiginous melanoma	1	BAP1 CL E G H	8314	614327	Tumor susceptibility linked to germline BAP1 mutations	614327	C3280492	OMIM	1	1514	950	603089
HP:0012056	HP:0012059	Lentigo maligna melanoma	1	BAP1 CL E G H	8314	614327	Tumor susceptibility linked to germline BAP1 mutations	614327	C3280492	OMIM	1	1683	950	603089
HP:0012056	HP:0012057	Superficial spreading melanoma	1	BAP1 CL E G H	8314	614327	Tumor susceptibility linked to germline BAP1 mutations	614327	C3280492	OMIM	1	1683	950	603089
HP:0012056	HP:0012057	Superficial spreading melanoma	1	CDKN2A CL E G H	1029	155755	Melanoma astrocytoma syndrome	155755	C1835042	OMIM	1	971	1787	600160
HP:0012056	HP:0012059	Lentigo maligna melanoma	1	CDKN2A CL E G H	1029	155755	Melanoma astrocytoma syndrome	155755	C1835042	OMIM	1	971	1787	600160
HP:0012056	HP:0012058	Nodular melanoma	1	CDKN2A CL E G H	1029	155755	Melanoma astrocytoma syndrome	155755	C1835042	OMIM	1	1062	1787	600160
HP:0012056	HP:0012060	Acral lentiginous melanoma	1	CDKN2A CL E G H	1029	155755	Melanoma astrocytoma syndrome	155755	C1835042	OMIM	1	1062	1787	600160
HP:0012056	HP:0012058	Nodular melanoma	1	CDKN2A CL E G H	1029	155755	Melanoma astrocytoma syndrome	155755	C1835042	OMIM	1	971	1787	600160
HP:0012056	HP:0012060	Acral lentiginous melanoma	1	CDKN2A CL E G H	1029	155755	Melanoma astrocytoma syndrome	155755	C1835042	OMIM	1	971	1787	600160
HP:0012056	HP:0012057	Superficial spreading melanoma	1	CDKN2A CL E G H	1029	155755	Melanoma astrocytoma syndrome	155755	C1835042	OMIM	1	1062	1787	600160
HP:0012056	HP:0012059	Lentigo maligna melanoma	1	CDKN2A CL E G H	1029	155755	Melanoma astrocytoma syndrome	155755	C1835042	OMIM	1	1062	1787	600160
HP:0012056	HP:0012060	Acral lentiginous melanoma	1	ERCC3 CL E G H	2071	610651	Xeroderma pigmentosum, complementation group b	610651	C1970808	OMIM	1	186	3435	133510
HP:0012056	HP:0012058	Nodular melanoma	1	ERCC3 CL E G H	2071	610651	Xeroderma pigmentosum, complementation group b	610651	C1970808	OMIM	1	186	3435	133510
HP:0012056	HP:0012059	Lentigo maligna melanoma	1	ERCC3 CL E G H	2071	610651	Xeroderma pigmentosum, complementation group b	610651	C1970808	OMIM	1	283	3435	133510
HP:0012056	HP:0012057	Superficial spreading melanoma	1	ERCC3 CL E G H	2071	610651	Xeroderma pigmentosum, complementation group b	610651	C1970808	OMIM	1	283	3435	133510
HP:0012056	HP:0012059	Lentigo maligna melanoma	1	ERCC3 CL E G H	2071	610651	Xeroderma pigmentosum, complementation group b	610651	C1970808	OMIM	1	186	3435	133510
HP:0012056	HP:0012057	Superficial spreading melanoma	1	ERCC3 CL E G H	2071	610651	Xeroderma pigmentosum, complementation group b	610651	C1970808	OMIM	1	186	3435	133510
HP:0012056	HP:0012060	Acral lentiginous melanoma	1	ERCC3 CL E G H	2071	610651	Xeroderma pigmentosum, complementation group b	610651	C1970808	OMIM	1	283	3435	133510
HP:0012056	HP:0012058	Nodular melanoma	1	ERCC3 CL E G H	2071	610651	Xeroderma pigmentosum, complementation group b	610651	C1970808	OMIM	1	283	3435	133510
HP:0012056	HP:0012057	Superficial spreading melanoma	1	HRAS CL E G H	3265	137550	Congenital giant melanocytic nevus	137550	C1842036	OMIM	1	411	5173	190020
HP:0012056	HP:0012059	Lentigo maligna melanoma	1	HRAS CL E G H	3265	137550	Congenital giant melanocytic nevus	137550	C1842036	OMIM	1	411	5173	190020
HP:0012056	HP:0012058	Nodular melanoma	1	HRAS CL E G H	3265	137550	Congenital giant melanocytic nevus	137550	C1842036	OMIM	1	467	5173	190020
HP:0012056	HP:0012060	Acral lentiginous melanoma	1	HRAS CL E G H	3265	137550	Congenital giant melanocytic nevus	137550	C1842036	OMIM	1	467	5173	190020
HP:0012056	HP:0012060	Acral lentiginous melanoma	1	HRAS CL E G H	3265	137550	Congenital giant melanocytic nevus	137550	C1842036	OMIM	1	411	5173	190020
HP:0012056	HP:0012058	Nodular melanoma	1	HRAS CL E G H	3265	137550	Congenital giant melanocytic nevus	137550	C1842036	OMIM	1	411	5173	190020
HP:0012056	HP:0012057	Superficial spreading melanoma	1	HRAS CL E G H	3265	137550	Congenital giant melanocytic nevus	137550	C1842036	OMIM	1	467	5173	190020
HP:0012056	HP:0012059	Lentigo maligna melanoma	1	HRAS CL E G H	3265	137550	Congenital giant melanocytic nevus	137550	C1842036	OMIM	1	467	5173	190020
HP:0012056	HP:0012060	Acral lentiginous melanoma	1	NRAS CL E G H	4893	137550	Congenital giant melanocytic nevus	137550	C1842036	OMIM	1	212	7989	164790
HP:0012056	HP:0012058	Nodular melanoma	1	NRAS CL E G H	4893	137550	Congenital giant melanocytic nevus	137550	C1842036	OMIM	1	212	7989	164790
HP:0012056	HP:0012059	Lentigo maligna melanoma	1	NRAS CL E G H	4893	137550	Congenital giant melanocytic nevus	137550	C1842036	OMIM	1	226	7989	164790
HP:0012056	HP:0012057	Superficial spreading melanoma	1	NRAS CL E G H	4893	137550	Congenital giant melanocytic nevus	137550	C1842036	OMIM	1	226	7989	164790
HP:0012056	HP:0012059	Lentigo maligna melanoma	1	NRAS CL E G H	4893	137550	Congenital giant melanocytic nevus	137550	C1842036	OMIM	1	212	7989	164790
HP:0012056	HP:0012057	Superficial spreading melanoma	1	NRAS CL E G H	4893	137550	Congenital giant melanocytic nevus	137550	C1842036	OMIM	1	212	7989	164790
HP:0012056	HP:0012060	Acral lentiginous melanoma	1	NRAS CL E G H	4893	137550	Congenital giant melanocytic nevus	137550	C1842036	OMIM	1	226	7989	164790
HP:0012056	HP:0012058	Nodular melanoma	1	NRAS CL E G H	4893	137550	Congenital giant melanocytic nevus	137550	C1842036	OMIM	1	226	7989	164790
HP:0012056	HP:0012059	Lentigo maligna melanoma	1	POLH CL E G H	5429	278750	Xeroderma pigmentosum, variant type	278750	C1848410	OMIM	1	303	9181	603968
HP:0012056	HP:0012057	Superficial spreading melanoma	1	POLH CL E G H	5429	278750	Xeroderma pigmentosum, variant type	278750	C1848410	OMIM	1	303	9181	603968
HP:0012056	HP:0012058	Nodular melanoma	1	POLH CL E G H	5429	278750	Xeroderma pigmentosum, variant type	278750	C1848410	OMIM	1	307	9181	603968
HP:0012056	HP:0012060	Acral lentiginous melanoma	1	POLH CL E G H	5429	278750	Xeroderma pigmentosum, variant type	278750	C1848410	OMIM	1	307	9181	603968
HP:0012056	HP:0012058	Nodular melanoma	1	POLH CL E G H	5429	278750	Xeroderma pigmentosum, variant type	278750	C1848410	OMIM	1	303	9181	603968
HP:0012056	HP:0012060	Acral lentiginous melanoma	1	POLH CL E G H	5429	278750	Xeroderma pigmentosum, variant type	278750	C1848410	OMIM	1	303	9181	603968
HP:0012056	HP:0012059	Lentigo maligna melanoma	1	POLH CL E G H	5429	278750	Xeroderma pigmentosum, variant type	278750	C1848410	OMIM	1	307	9181	603968
HP:0012056	HP:0012057	Superficial spreading melanoma	1	POLH CL E G H	5429	278750	Xeroderma pigmentosum, variant type	278750	C1848410	OMIM	1	307	9181	603968
HP:0012056	HP:0012060	Acral lentiginous melanoma	1	XPC CL E G H	7508	278720	Xeroderma pigmentosum, group C	278720	C2752147	OMIM	1	518	12816	613208
HP:0012056	HP:0012058	Nodular melanoma	1	XPC CL E G H	7508	278720	Xeroderma pigmentosum, group C	278720	C2752147	OMIM	1	518	12816	613208
HP:0012056	HP:0012059	Lentigo maligna melanoma	1	XPC CL E G H	7508	278720	Xeroderma pigmentosum, group C	278720	C2752147	OMIM	1	545	12816	613208
HP:0012056	HP:0012057	Superficial spreading melanoma	1	XPC CL E G H	7508	278720	Xeroderma pigmentosum, group C	278720	C2752147	OMIM	1	545	12816	613208
HP:0012056	HP:0012059	Lentigo maligna melanoma	1	XPC CL E G H	7508	278720	Xeroderma pigmentosum, group C	278720	C2752147	OMIM	1	518	12816	613208
HP:0012056	HP:0012057	Superficial spreading melanoma	1	XPC CL E G H	7508	278720	Xeroderma pigmentosum, group C	278720	C2752147	OMIM	1	518	12816	613208
HP:0012056	HP:0012060	Acral lentiginous melanoma	1	XPC CL E G H	7508	278720	Xeroderma pigmentosum, group C	278720	C2752147	OMIM	1	545	12816	613208
HP:0012056	HP:0012058	Nodular melanoma	1	XPC CL E G H	7508	278720	Xeroderma pigmentosum, group C	278720	C2752147	OMIM	1	545	12816	613208
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012056	HP:0012056	Cutaneous melanoma	0	MC1R CL E G H	4157	626				ORPHA	0	376	6929	155555
HP:0012056	HP:0012056	Cutaneous melanoma	0	MC1R CL E G H	4157	626				ORPHA	0	428	6929	155555
HP:0012056	HP:0012056	Cutaneous melanoma	0	NRAS CL E G H	4893	626				ORPHA	0	226	7989	164790
HP:0012056	HP:0012056	Cutaneous melanoma	0	NRAS CL E G H	4893	626				ORPHA	0	212	7989	164790
HP:0012056	HP:0012060	Acral lentiginous melanoma	1	MC1R CL E G H	4157	626				ORPHA	0	376	6929	155555
HP:0012056	HP:0012058	Nodular melanoma	1	MC1R CL E G H	4157	626				ORPHA	0	376	6929	155555
HP:0012056	HP:0012059	Lentigo maligna melanoma	1	MC1R CL E G H	4157	626				ORPHA	0	428	6929	155555
HP:0012056	HP:0012057	Superficial spreading melanoma	1	MC1R CL E G H	4157	626				ORPHA	0	428	6929	155555
HP:0012056	HP:0012059	Lentigo maligna melanoma	1	MC1R CL E G H	4157	626				ORPHA	0	376	6929	155555
HP:0012056	HP:0012057	Superficial spreading melanoma	1	MC1R CL E G H	4157	626				ORPHA	0	376	6929	155555
HP:0012056	HP:0012060	Acral lentiginous melanoma	1	MC1R CL E G H	4157	626				ORPHA	0	428	6929	155555
HP:0012056	HP:0012058	Nodular melanoma	1	MC1R CL E G H	4157	626				ORPHA	0	428	6929	155555
HP:0012056	HP:0012059	Lentigo maligna melanoma	1	NRAS CL E G H	4893	626				ORPHA	0	212	7989	164790
HP:0012056	HP:0012057	Superficial spreading melanoma	1	NRAS CL E G H	4893	626				ORPHA	0	212	7989	164790
HP:0012056	HP:0012060	Acral lentiginous melanoma	1	NRAS CL E G H	4893	626				ORPHA	0	226	7989	164790
HP:0012056	HP:0012058	Nodular melanoma	1	NRAS CL E G H	4893	626				ORPHA	0	226	7989	164790
HP:0012056	HP:0012060	Acral lentiginous melanoma	1	NRAS CL E G H	4893	626				ORPHA	0	212	7989	164790
HP:0012056	HP:0012058	Nodular melanoma	1	NRAS CL E G H	4893	626				ORPHA	0	212	7989	164790
HP:0012056	HP:0012059	Lentigo maligna melanoma	1	NRAS CL E G H	4893	626				ORPHA	0	226	7989	164790
HP:0012056	HP:0012057	Superficial spreading melanoma	1	NRAS CL E G H	4893	626				ORPHA	0	226	7989	164790