Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Neoplasm (HP:0002664)

Parent Node:
Neoplasm by histology (HP:0011792)

..Starting node
..Melanoma (HP:0002861)

Term ID:

2861

Name:

Melanoma

Synonym:

Cancer of skin pigment cells; Malignant melanoma; Skin cancer (melanoma)

Definition:

The presence of a melanoma, a malignant cancer originating from pigment producing melanocytes. Melanoma can originate from the skin or the pigmented layers of the eye (the uvea).

Comments:

Reference:

HP:0002861

Genes and Diseases:

Child Nodes:

........

Intraocular melanoma (HP:0007716)

................... HP:0011524 Iris melanoma
................... HP:0012054 Choroidal melanoma
................... HP:0012055 Ciliary body melanoma

........

Cutaneous melanoma (HP:0012056)

................... HP:0012057 Superficial spreading melanoma
................... HP:0012058 Nodular melanoma
................... HP:0012059 Lentigo maligna melanoma
................... HP:0012060 Acral lentiginous melanoma

Sister Nodes:

Embryonal neoplasm (HP:0002898)

Epithelial neoplasm (HP:0031492)

Fibrous tissue neoplasm (HP:0012316)

Hamartoma (HP:0010566)

Nervous tissue neoplasm (HP:0030060)

Sarcoma (HP:0100242)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	HGMD variants	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0002861	HP:0002861	Melanoma	0	ACD CL E G H	65057	618				ORPHA	1	9	135	25070	609377
HP:0002861	HP:0002861	Melanoma	0	BAP1 CL E G H	8314	618				ORPHA	1	119	1261	950	603089
HP:0002861	HP:0002861	Melanoma	0	CDK4 CL E G H	1019	618				ORPHA	1	18	450	1773	123829
HP:0002861	HP:0002861	Melanoma	0	CDKN2A CL E G H	1029	618				ORPHA	1	243	833	1787	600160
HP:0002861	HP:0002861	Melanoma	0	CDKN2A CL E G H	1029	606719	Melanoma-pancreatic cancer syndrome	606719	C1838547	OMIM	1	243	833	1787	600160
HP:0002861	HP:0002861	Melanoma	0	CDKN2B CL E G H	1030	618				ORPHA	1	14	93	1788	600431
HP:0002861	HP:0002861	Melanoma	0	CDKN2D CL E G H	1032	618				ORPHA	1		17	1790	600927
HP:0002861	HP:0002861	Melanoma	0	DDB2 CL E G H	1643	910	Blepharoptosis aortic anomaly			ORPHA	1	17	67	2718	600811
HP:0002861	HP:0002861	Melanoma	0	DDB2 CL E G H	1643	278740	Xeroderma pigmentosum, group E	278740	C1848411	OMIM	1	17	67	2718	600811
HP:0002861	HP:0002861	Melanoma	0	ERCC2 CL E G H	2068	220295				ORPHA	1	108	227	3434	126340
HP:0002861	HP:0002861	Melanoma	0	ERCC2 CL E G H	2068	910	Blepharoptosis aortic anomaly			ORPHA	1	108	227	3434	126340
HP:0002861	HP:0002861	Melanoma	0	ERCC2 CL E G H	2068	278730	Xeroderma pigmentosum, group D	278730	C0268138	OMIM	1	108	227	3434	126340
HP:0002861	HP:0002861	Melanoma	0	ERCC3 CL E G H	2071	220295				ORPHA	1	20	122	3435	133510
HP:0002861	HP:0002861	Melanoma	0	ERCC3 CL E G H	2071	910	Blepharoptosis aortic anomaly			ORPHA	1	20	122	3435	133510
HP:0002861	HP:0002861	Melanoma	0	ERCC4 CL E G H	2072	220295				ORPHA	1	72	348	3436	133520
HP:0002861	HP:0002861	Melanoma	0	ERCC4 CL E G H	2072	910	Blepharoptosis aortic anomaly			ORPHA	1	72	348	3436	133520
HP:0002861	HP:0002861	Melanoma	0	ERCC5 CL E G H	2073	220295				ORPHA	1	59	263	3437	133530
HP:0002861	HP:0002861	Melanoma	0	ERCC5 CL E G H	2073	910	Blepharoptosis aortic anomaly			ORPHA	1	59	263	3437	133530
HP:0002861	HP:0002861	Melanoma	0	ERCC6 CL E G H	2074	278800	DE SANCTIS-CACCHIONE SYNDROME	278800	C0265201	OMIM	1	140	499	3438	609413
HP:0002861	HP:0002861	Melanoma	0	MC1R CL E G H	4157	618				ORPHA	1	109	332	6929	155555
HP:0002861	HP:0002861	Melanoma	0	MGMT CL E G H	4255	618				ORPHA	1	9	87	7059	156569
HP:0002861	HP:0002861	Melanoma	0	MITF CL E G H	4286	618				ORPHA	1	61	240	7105	156845
HP:0002861	HP:0002861	Melanoma	0	NRAS CL E G H	4893	249400	Neurocutaneous melanosis	249400	C0544862	OMIM	1	14	181	7989	164790
HP:0002861	HP:0002861	Melanoma	0	POLH CL E G H	5429	90342				ORPHA	1	80	271	9181	603968
HP:0002861	HP:0002861	Melanoma	0	POT1 CL E G H	25913	618				ORPHA	1	42	659	17284	606478
HP:0002861	HP:0002861	Melanoma	0	TERF2IP CL E G H	54386	618				ORPHA	1	6	39	19246	605061
HP:0002861	HP:0002861	Melanoma	0	TERT CL E G H	7015	618				ORPHA	1	173	1159	11730	187270
HP:0002861	HP:0002861	Melanoma	0	XPA CL E G H	7507	910	Blepharoptosis aortic anomaly			ORPHA	1	51	155	12814	611153
HP:0002861	HP:0002861	Melanoma	0	XPA CL E G H	7507	278700	Xeroderma pigmentosum, type 1	278700	C0268135	OMIM	1	51	155	12814	611153
HP:0002861	HP:0002861	Melanoma	0	XPC CL E G H	7508	910	Blepharoptosis aortic anomaly			ORPHA	1	100	307	12816	613208
HP:0002861	HP:0002861	Melanoma	1	ACD CL E G H	65057	618				ORPHA	1	9	135	25070	609377
HP:0002861	HP:0002861	Melanoma	1	BAP1 CL E G H	8314	618				ORPHA	1	119	1261	950	603089
HP:0002861	HP:0002861	Melanoma	1	CDK4 CL E G H	1019	618				ORPHA	1	18	450	1773	123829
HP:0002861	HP:0002861	Melanoma	1	CDKN2A CL E G H	1029	618				ORPHA	1	243	833	1787	600160
HP:0002861	HP:0002861	Melanoma	1	CDKN2A CL E G H	1029	606719	Melanoma-pancreatic cancer syndrome	606719	C1838547	OMIM	1	243	833	1787	600160
HP:0002861	HP:0002861	Melanoma	1	CDKN2B CL E G H	1030	618				ORPHA	1	14	93	1788	600431
HP:0002861	HP:0002861	Melanoma	1	CDKN2D CL E G H	1032	618				ORPHA	1		17	1790	600927
HP:0002861	HP:0002861	Melanoma	1	DDB2 CL E G H	1643	910	Blepharoptosis aortic anomaly			ORPHA	1	17	67	2718	600811
HP:0002861	HP:0002861	Melanoma	1	DDB2 CL E G H	1643	278740	Xeroderma pigmentosum, group E	278740	C1848411	OMIM	1	17	67	2718	600811
HP:0002861	HP:0002861	Melanoma	1	ERCC2 CL E G H	2068	220295				ORPHA	1	108	227	3434	126340
HP:0002861	HP:0002861	Melanoma	1	ERCC2 CL E G H	2068	910	Blepharoptosis aortic anomaly			ORPHA	1	108	227	3434	126340
HP:0002861	HP:0002861	Melanoma	1	ERCC2 CL E G H	2068	278730	Xeroderma pigmentosum, group D	278730	C0268138	OMIM	1	108	227	3434	126340
HP:0002861	HP:0002861	Melanoma	1	ERCC3 CL E G H	2071	220295				ORPHA	1	20	122	3435	133510
HP:0002861	HP:0002861	Melanoma	1	ERCC3 CL E G H	2071	910	Blepharoptosis aortic anomaly			ORPHA	1	20	122	3435	133510
HP:0002861	HP:0002861	Melanoma	1	ERCC4 CL E G H	2072	220295				ORPHA	1	72	348	3436	133520
HP:0002861	HP:0002861	Melanoma	1	ERCC4 CL E G H	2072	910	Blepharoptosis aortic anomaly			ORPHA	1	72	348	3436	133520
HP:0002861	HP:0002861	Melanoma	1	ERCC5 CL E G H	2073	220295				ORPHA	1	59	263	3437	133530
HP:0002861	HP:0002861	Melanoma	1	ERCC5 CL E G H	2073	910	Blepharoptosis aortic anomaly			ORPHA	1	59	263	3437	133530
HP:0002861	HP:0002861	Melanoma	1	ERCC6 CL E G H	2074	278800	DE SANCTIS-CACCHIONE SYNDROME	278800	C0265201	OMIM	1	140	499	3438	609413
HP:0002861	HP:0002861	Melanoma	1	MC1R CL E G H	4157	618				ORPHA	1	109	332	6929	155555
HP:0002861	HP:0002861	Melanoma	1	MGMT CL E G H	4255	618				ORPHA	1	9	87	7059	156569
HP:0002861	HP:0002861	Melanoma	1	MITF CL E G H	4286	618				ORPHA	1	61	240	7105	156845
HP:0002861	HP:0002861	Melanoma	1	NRAS CL E G H	4893	249400	Neurocutaneous melanosis	249400	C0544862	OMIM	1	14	181	7989	164790
HP:0002861	HP:0002861	Melanoma	1	POLH CL E G H	5429	90342				ORPHA	1	80	271	9181	603968
HP:0002861	HP:0002861	Melanoma	1	POT1 CL E G H	25913	618				ORPHA	1	42	659	17284	606478
HP:0002861	HP:0002861	Melanoma	1	TERF2IP CL E G H	54386	618				ORPHA	1	6	39	19246	605061
HP:0002861	HP:0002861	Melanoma	1	TERT CL E G H	7015	618				ORPHA	1	173	1159	11730	187270
HP:0002861	HP:0002861	Melanoma	1	XPA CL E G H	7507	910	Blepharoptosis aortic anomaly			ORPHA	1	51	155	12814	611153
HP:0002861	HP:0002861	Melanoma	1	XPA CL E G H	7507	278700	Xeroderma pigmentosum, type 1	278700	C0268135	OMIM	1	51	155	12814	611153
HP:0002861	HP:0002861	Melanoma	1	XPC CL E G H	7508	910	Blepharoptosis aortic anomaly			ORPHA	1	100	307	12816	613208
HP:0002861	HP:0002861	Melanoma	2	ACD CL E G H	65057	618				ORPHA	1	9	135	25070	609377
HP:0002861	HP:0002861	Melanoma	2	BAP1 CL E G H	8314	618				ORPHA	1	119	1261	950	603089
HP:0002861	HP:0002861	Melanoma	2	CDK4 CL E G H	1019	618				ORPHA	1	18	450	1773	123829
HP:0002861	HP:0002861	Melanoma	2	CDKN2A CL E G H	1029	618				ORPHA	1	243	833	1787	600160
HP:0002861	HP:0002861	Melanoma	2	CDKN2A CL E G H	1029	606719	Melanoma-pancreatic cancer syndrome	606719	C1838547	OMIM	1	243	833	1787	600160
HP:0002861	HP:0002861	Melanoma	2	CDKN2B CL E G H	1030	618				ORPHA	1	14	93	1788	600431
HP:0002861	HP:0002861	Melanoma	2	CDKN2D CL E G H	1032	618				ORPHA	1		17	1790	600927
HP:0002861	HP:0002861	Melanoma	2	DDB2 CL E G H	1643	910	Blepharoptosis aortic anomaly			ORPHA	1	17	67	2718	600811
HP:0002861	HP:0002861	Melanoma	2	DDB2 CL E G H	1643	278740	Xeroderma pigmentosum, group E	278740	C1848411	OMIM	1	17	67	2718	600811
HP:0002861	HP:0002861	Melanoma	2	ERCC2 CL E G H	2068	220295				ORPHA	1	108	227	3434	126340
HP:0002861	HP:0002861	Melanoma	2	ERCC2 CL E G H	2068	910	Blepharoptosis aortic anomaly			ORPHA	1	108	227	3434	126340
HP:0002861	HP:0002861	Melanoma	2	ERCC2 CL E G H	2068	278730	Xeroderma pigmentosum, group D	278730	C0268138	OMIM	1	108	227	3434	126340
HP:0002861	HP:0002861	Melanoma	2	ERCC3 CL E G H	2071	220295				ORPHA	1	20	122	3435	133510
HP:0002861	HP:0002861	Melanoma	2	ERCC3 CL E G H	2071	910	Blepharoptosis aortic anomaly			ORPHA	1	20	122	3435	133510
HP:0002861	HP:0002861	Melanoma	2	ERCC4 CL E G H	2072	220295				ORPHA	1	72	348	3436	133520
HP:0002861	HP:0002861	Melanoma	2	ERCC4 CL E G H	2072	910	Blepharoptosis aortic anomaly			ORPHA	1	72	348	3436	133520
HP:0002861	HP:0002861	Melanoma	2	ERCC5 CL E G H	2073	220295				ORPHA	1	59	263	3437	133530
HP:0002861	HP:0002861	Melanoma	2	ERCC5 CL E G H	2073	910	Blepharoptosis aortic anomaly			ORPHA	1	59	263	3437	133530
HP:0002861	HP:0002861	Melanoma	2	ERCC6 CL E G H	2074	278800	DE SANCTIS-CACCHIONE SYNDROME	278800	C0265201	OMIM	1	140	499	3438	609413
HP:0002861	HP:0002861	Melanoma	2	MC1R CL E G H	4157	618				ORPHA	1	109	332	6929	155555
HP:0002861	HP:0002861	Melanoma	2	MGMT CL E G H	4255	618				ORPHA	1	9	87	7059	156569
HP:0002861	HP:0002861	Melanoma	2	MITF CL E G H	4286	618				ORPHA	1	61	240	7105	156845
HP:0002861	HP:0002861	Melanoma	2	NRAS CL E G H	4893	249400	Neurocutaneous melanosis	249400	C0544862	OMIM	1	14	181	7989	164790
HP:0002861	HP:0002861	Melanoma	2	POLH CL E G H	5429	90342				ORPHA	1	80	271	9181	603968
HP:0002861	HP:0002861	Melanoma	2	POT1 CL E G H	25913	618				ORPHA	1	42	659	17284	606478
HP:0002861	HP:0002861	Melanoma	2	TERF2IP CL E G H	54386	618				ORPHA	1	6	39	19246	605061
HP:0002861	HP:0002861	Melanoma	2	TERT CL E G H	7015	618				ORPHA	1	173	1159	11730	187270
HP:0002861	HP:0002861	Melanoma	2	XPA CL E G H	7507	910	Blepharoptosis aortic anomaly			ORPHA	1	51	155	12814	611153
HP:0002861	HP:0002861	Melanoma	2	XPA CL E G H	7507	278700	Xeroderma pigmentosum, type 1	278700	C0268135	OMIM	1	51	155	12814	611153
HP:0002861	HP:0002861	Melanoma	2	XPC CL E G H	7508	910	Blepharoptosis aortic anomaly			ORPHA	1	100	307	12816	613208
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002861	HP:0002861	Melanoma	0	AKT1 CL E G H	207	201				ORPHA	0	12	269	391	164730
HP:0002861	HP:0002861	Melanoma	0	BARD1 CL E G H	580	145	Hereditary breast and ovarian cancer syndrome		C0677776	ORPHA	0	125	2208	952	601593
HP:0002861	HP:0002861	Melanoma	0	BRAF CL E G H	673	500				ORPHA	0	68	490	1097	164757
HP:0002861	HP:0002861	Melanoma	0	BRCA1 CL E G H	672	1333	Chromosome 19, ring		CN036553	ORPHA	0	2824	11498	1100	113705
HP:0002861	HP:0002861	Melanoma	0	BRCA1 CL E G H	672	145	Hereditary breast and ovarian cancer syndrome		C0677776	ORPHA	0	2824	11498	1100	113705
HP:0002861	HP:0002861	Melanoma	0	BRCA2 CL E G H	675	1333	Chromosome 19, ring		CN036553	ORPHA	0	3025	12706	1101	600185
HP:0002861	HP:0002861	Melanoma	0	BRCA2 CL E G H	675	145	Hereditary breast and ovarian cancer syndrome		C0677776	ORPHA	0	3025	12706	1101	600185
HP:0002861	HP:0002861	Melanoma	0	BRIP1 CL E G H	83990	145	Hereditary breast and ovarian cancer syndrome		C0677776	ORPHA	0	202	3050	20473	605882
HP:0002861	HP:0002861	Melanoma	0	CDKN2A CL E G H	1029	524	Acute megakaryoblastic leukemia		C0023462	ORPHA	0	243	833	1787	600160
HP:0002861	HP:0002861	Melanoma	0	CDKN2A CL E G H	1029	1333	Chromosome 19, ring		CN036553	ORPHA	0	243	833	1787	600160
HP:0002861	HP:0002861	Melanoma	0	CHEK2 CL E G H	11200	524	Acute megakaryoblastic leukemia		C0023462	ORPHA	0	213	2260	16627	604373
HP:0002861	HP:0002861	Melanoma	0	CHEK2 CL E G H	11200	145	Hereditary breast and ovarian cancer syndrome		C0677776	ORPHA	0	213	2260	16627	604373
HP:0002861	HP:0002861	Melanoma	0	CTSC CL E G H	1075	678				ORPHA	0	96	140	2528	602365
HP:0002861	HP:0002861	Melanoma	0	KLLN CL E G H	100144748	201				ORPHA	0	8	238	37212	612105
HP:0002861	HP:0002861	Melanoma	0	KRAS CL E G H	3845	1333	Chromosome 19, ring		CN036553	ORPHA	0	45	274	6407	190070
HP:0002861	HP:0002861	Melanoma	0	MBTPS2 CL E G H	51360	659	Amyoplasia			ORPHA	0	26	207	15455	300294
HP:0002861	HP:0002861	Melanoma	0	MC1R CL E G H	4157	79432				ORPHA	0	109	332	6929	155555
HP:0002861	HP:0002861	Melanoma	0	MDM2 CL E G H	4193	524	Acute megakaryoblastic leukemia		C0023462	ORPHA	0	8	30	6973	164785
HP:0002861	HP:0002861	Melanoma	0	MRE11 CL E G H	4361	145	Hereditary breast and ovarian cancer syndrome		C0677776	ORPHA	0	57	1104	7230	600814
HP:0002861	HP:0002861	Melanoma	0	NBN CL E G H	4683	145	Hereditary breast and ovarian cancer syndrome		C0677776	ORPHA	0	148	2045	7652	602667
HP:0002861	HP:0002861	Melanoma	0	OCA2 CL E G H	4948	79432				ORPHA	0	316	538	8101	611409
HP:0002861	HP:0002861	Melanoma	0	PALB2 CL E G H	79728	1333	Chromosome 19, ring		CN036553	ORPHA	0	417	3503	26144	610355
HP:0002861	HP:0002861	Melanoma	0	PALB2 CL E G H	79728	145	Hereditary breast and ovarian cancer syndrome		C0677776	ORPHA	0	417	3503	26144	610355
HP:0002861	HP:0002861	Melanoma	0	PALLD CL E G H	23022	1333	Chromosome 19, ring		CN036553	ORPHA	0	4	395	17068	608092
HP:0002861	HP:0002861	Melanoma	0	PIK3CA CL E G H	5290	201				ORPHA	0	57	379	8975	171834
HP:0002861	HP:0002861	Melanoma	0	PTEN CL E G H	5728	201				ORPHA	0	658	2019	9588	601728
HP:0002861	HP:0002861	Melanoma	0	PTEN CL E G H	5728	145	Hereditary breast and ovarian cancer syndrome		C0677776	ORPHA	0	658	2019	9588	601728
HP:0002861	HP:0002861	Melanoma	0	PTPN11 CL E G H	5781	500				ORPHA	0	143	475	9644	176876
HP:0002861	HP:0002861	Melanoma	0	RAD50 CL E G H	10111	145	Hereditary breast and ovarian cancer syndrome		C0677776	ORPHA	0	95	2206	9816	604040
HP:0002861	HP:0002861	Melanoma	0	RAD51 CL E G H	5888	145	Hereditary breast and ovarian cancer syndrome		C0677776	ORPHA	0	16	36	9817	179617
HP:0002861	HP:0002861	Melanoma	0	RAD51C CL E G H	5889	145	Hereditary breast and ovarian cancer syndrome		C0677776	ORPHA	0	131	1130	9820	602774
HP:0002861	HP:0002861	Melanoma	0	RAD51D CL E G H	5892	145	Hereditary breast and ovarian cancer syndrome		C0677776	ORPHA	0	86	973	9823	602954
HP:0002861	HP:0002861	Melanoma	0	RAF1 CL E G H	5894	500				ORPHA	0	54	508	9829	164760
HP:0002861	HP:0002861	Melanoma	0	RNF43 CL E G H	54894	157798				ORPHA	0	12	65	18505	612482
HP:0002861	HP:0002861	Melanoma	0	SDHB CL E G H	6390	201				ORPHA	0	279	667	10681	185470
HP:0002861	HP:0002861	Melanoma	0	SDHC CL E G H	6391	201				ORPHA	0	62	415	10682	602413
HP:0002861	HP:0002861	Melanoma	0	SDHD CL E G H	6392	201				ORPHA	0	174	361	10683	602690
HP:0002861	HP:0002861	Melanoma	0	SEC23B CL E G H	10483	201				ORPHA	0	126	143	10702	610512
HP:0002861	HP:0002861	Melanoma	0	SLC45A2 CL E G H	51151	79435				ORPHA	0	161	124	16472	606202
HP:0002861	HP:0002861	Melanoma	0	SMAD4 CL E G H	4089	1333	Chromosome 19, ring		CN036553	ORPHA	0	147	1257	6770	600993
HP:0002861	HP:0002861	Melanoma	0	TP53 CL E G H	7157	524	Acute megakaryoblastic leukemia		C0023462	ORPHA	0	541	2035	11998	191170
HP:0002861	HP:0002861	Melanoma	0	TP53 CL E G H	7157	1333	Chromosome 19, ring		CN036553	ORPHA	0	541	2035	11998	191170
HP:0002861	HP:0002861	Melanoma	0	TP53 CL E G H	7157	145	Hereditary breast and ovarian cancer syndrome		C0677776	ORPHA	0	541	2035	11998	191170
HP:0002861	HP:0002861	Melanoma	0	TRPV3 CL E G H	162514	659	Amyoplasia			ORPHA	0	17	277	18084	607066
HP:0002861	HP:0002861	Melanoma	0	TYR CL E G H	7299	79434				ORPHA	0	445	226	12442	606933
HP:0002861	HP:0002861	Melanoma	1	AKT1 CL E G H	207	201				ORPHA	0	12	269	391	164730
HP:0002861	HP:0002861	Melanoma	1	BARD1 CL E G H	580	145	Hereditary breast and ovarian cancer syndrome		C0677776	ORPHA	0	125	2208	952	601593
HP:0002861	HP:0002861	Melanoma	1	BRAF CL E G H	673	500				ORPHA	0	68	490	1097	164757
HP:0002861	HP:0002861	Melanoma	1	BRCA1 CL E G H	672	1333	Chromosome 19, ring		CN036553	ORPHA	0	2824	11498	1100	113705
HP:0002861	HP:0002861	Melanoma	1	BRCA1 CL E G H	672	145	Hereditary breast and ovarian cancer syndrome		C0677776	ORPHA	0	2824	11498	1100	113705
HP:0002861	HP:0002861	Melanoma	1	BRCA2 CL E G H	675	1333	Chromosome 19, ring		CN036553	ORPHA	0	3025	12706	1101	600185
HP:0002861	HP:0002861	Melanoma	1	BRCA2 CL E G H	675	145	Hereditary breast and ovarian cancer syndrome		C0677776	ORPHA	0	3025	12706	1101	600185
HP:0002861	HP:0002861	Melanoma	1	BRIP1 CL E G H	83990	145	Hereditary breast and ovarian cancer syndrome		C0677776	ORPHA	0	202	3050	20473	605882
HP:0002861	HP:0002861	Melanoma	1	CDKN2A CL E G H	1029	524	Acute megakaryoblastic leukemia		C0023462	ORPHA	0	243	833	1787	600160
HP:0002861	HP:0002861	Melanoma	1	CDKN2A CL E G H	1029	1333	Chromosome 19, ring		CN036553	ORPHA	0	243	833	1787	600160
HP:0002861	HP:0002861	Melanoma	1	CHEK2 CL E G H	11200	524	Acute megakaryoblastic leukemia		C0023462	ORPHA	0	213	2260	16627	604373
HP:0002861	HP:0002861	Melanoma	1	CHEK2 CL E G H	11200	145	Hereditary breast and ovarian cancer syndrome		C0677776	ORPHA	0	213	2260	16627	604373
HP:0002861	HP:0002861	Melanoma	1	CTSC CL E G H	1075	678				ORPHA	0	96	140	2528	602365
HP:0002861	HP:0002861	Melanoma	1	KLLN CL E G H	100144748	201				ORPHA	0	8	238	37212	612105
HP:0002861	HP:0002861	Melanoma	1	KRAS CL E G H	3845	1333	Chromosome 19, ring		CN036553	ORPHA	0	45	274	6407	190070
HP:0002861	HP:0002861	Melanoma	1	MBTPS2 CL E G H	51360	659	Amyoplasia			ORPHA	0	26	207	15455	300294
HP:0002861	HP:0002861	Melanoma	1	MC1R CL E G H	4157	79432				ORPHA	0	109	332	6929	155555
HP:0002861	HP:0002861	Melanoma	1	MDM2 CL E G H	4193	524	Acute megakaryoblastic leukemia		C0023462	ORPHA	0	8	30	6973	164785
HP:0002861	HP:0002861	Melanoma	1	MRE11 CL E G H	4361	145	Hereditary breast and ovarian cancer syndrome		C0677776	ORPHA	0	57	1104	7230	600814
HP:0002861	HP:0002861	Melanoma	1	NBN CL E G H	4683	145	Hereditary breast and ovarian cancer syndrome		C0677776	ORPHA	0	148	2045	7652	602667
HP:0002861	HP:0002861	Melanoma	1	OCA2 CL E G H	4948	79432				ORPHA	0	316	538	8101	611409
HP:0002861	HP:0002861	Melanoma	1	PALB2 CL E G H	79728	1333	Chromosome 19, ring		CN036553	ORPHA	0	417	3503	26144	610355
HP:0002861	HP:0002861	Melanoma	1	PALB2 CL E G H	79728	145	Hereditary breast and ovarian cancer syndrome		C0677776	ORPHA	0	417	3503	26144	610355
HP:0002861	HP:0002861	Melanoma	1	PALLD CL E G H	23022	1333	Chromosome 19, ring		CN036553	ORPHA	0	4	395	17068	608092
HP:0002861	HP:0002861	Melanoma	1	PIK3CA CL E G H	5290	201				ORPHA	0	57	379	8975	171834
HP:0002861	HP:0002861	Melanoma	1	PTEN CL E G H	5728	201				ORPHA	0	658	2019	9588	601728
HP:0002861	HP:0002861	Melanoma	1	PTEN CL E G H	5728	145	Hereditary breast and ovarian cancer syndrome		C0677776	ORPHA	0	658	2019	9588	601728
HP:0002861	HP:0002861	Melanoma	1	PTPN11 CL E G H	5781	500				ORPHA	0	143	475	9644	176876
HP:0002861	HP:0002861	Melanoma	1	RAD50 CL E G H	10111	145	Hereditary breast and ovarian cancer syndrome		C0677776	ORPHA	0	95	2206	9816	604040
HP:0002861	HP:0002861	Melanoma	1	RAD51 CL E G H	5888	145	Hereditary breast and ovarian cancer syndrome		C0677776	ORPHA	0	16	36	9817	179617
HP:0002861	HP:0002861	Melanoma	1	RAD51C CL E G H	5889	145	Hereditary breast and ovarian cancer syndrome		C0677776	ORPHA	0	131	1130	9820	602774
HP:0002861	HP:0002861	Melanoma	1	RAD51D CL E G H	5892	145	Hereditary breast and ovarian cancer syndrome		C0677776	ORPHA	0	86	973	9823	602954
HP:0002861	HP:0002861	Melanoma	1	RAF1 CL E G H	5894	500				ORPHA	0	54	508	9829	164760
HP:0002861	HP:0002861	Melanoma	1	RNF43 CL E G H	54894	157798				ORPHA	0	12	65	18505	612482
HP:0002861	HP:0002861	Melanoma	1	SDHB CL E G H	6390	201				ORPHA	0	279	667	10681	185470
HP:0002861	HP:0002861	Melanoma	1	SDHC CL E G H	6391	201				ORPHA	0	62	415	10682	602413
HP:0002861	HP:0002861	Melanoma	1	SDHD CL E G H	6392	201				ORPHA	0	174	361	10683	602690
HP:0002861	HP:0002861	Melanoma	1	SEC23B CL E G H	10483	201				ORPHA	0	126	143	10702	610512
HP:0002861	HP:0002861	Melanoma	1	SLC45A2 CL E G H	51151	79435				ORPHA	0	161	124	16472	606202
HP:0002861	HP:0002861	Melanoma	1	SMAD4 CL E G H	4089	1333	Chromosome 19, ring		CN036553	ORPHA	0	147	1257	6770	600993
HP:0002861	HP:0002861	Melanoma	1	TP53 CL E G H	7157	524	Acute megakaryoblastic leukemia		C0023462	ORPHA	0	541	2035	11998	191170
HP:0002861	HP:0002861	Melanoma	1	TP53 CL E G H	7157	1333	Chromosome 19, ring		CN036553	ORPHA	0	541	2035	11998	191170
HP:0002861	HP:0002861	Melanoma	1	TP53 CL E G H	7157	145	Hereditary breast and ovarian cancer syndrome		C0677776	ORPHA	0	541	2035	11998	191170
HP:0002861	HP:0002861	Melanoma	1	TRPV3 CL E G H	162514	659	Amyoplasia			ORPHA	0	17	277	18084	607066
HP:0002861	HP:0002861	Melanoma	1	TYR CL E G H	7299	79434				ORPHA	0	445	226	12442	606933
HP:0002861	HP:0002861	Melanoma	2	AKT1 CL E G H	207	201				ORPHA	0	12	269	391	164730
HP:0002861	HP:0002861	Melanoma	2	BARD1 CL E G H	580	145	Hereditary breast and ovarian cancer syndrome		C0677776	ORPHA	0	125	2208	952	601593
HP:0002861	HP:0002861	Melanoma	2	BRAF CL E G H	673	500				ORPHA	0	68	490	1097	164757
HP:0002861	HP:0002861	Melanoma	2	BRCA1 CL E G H	672	1333	Chromosome 19, ring		CN036553	ORPHA	0	2824	11498	1100	113705
HP:0002861	HP:0002861	Melanoma	2	BRCA1 CL E G H	672	145	Hereditary breast and ovarian cancer syndrome		C0677776	ORPHA	0	2824	11498	1100	113705
HP:0002861	HP:0002861	Melanoma	2	BRCA2 CL E G H	675	1333	Chromosome 19, ring		CN036553	ORPHA	0	3025	12706	1101	600185
HP:0002861	HP:0002861	Melanoma	2	BRCA2 CL E G H	675	145	Hereditary breast and ovarian cancer syndrome		C0677776	ORPHA	0	3025	12706	1101	600185
HP:0002861	HP:0002861	Melanoma	2	BRIP1 CL E G H	83990	145	Hereditary breast and ovarian cancer syndrome		C0677776	ORPHA	0	202	3050	20473	605882
HP:0002861	HP:0002861	Melanoma	2	CDKN2A CL E G H	1029	524	Acute megakaryoblastic leukemia		C0023462	ORPHA	0	243	833	1787	600160
HP:0002861	HP:0002861	Melanoma	2	CDKN2A CL E G H	1029	1333	Chromosome 19, ring		CN036553	ORPHA	0	243	833	1787	600160
HP:0002861	HP:0002861	Melanoma	2	CHEK2 CL E G H	11200	524	Acute megakaryoblastic leukemia		C0023462	ORPHA	0	213	2260	16627	604373
HP:0002861	HP:0002861	Melanoma	2	CHEK2 CL E G H	11200	145	Hereditary breast and ovarian cancer syndrome		C0677776	ORPHA	0	213	2260	16627	604373
HP:0002861	HP:0002861	Melanoma	2	CTSC CL E G H	1075	678				ORPHA	0	96	140	2528	602365
HP:0002861	HP:0002861	Melanoma	2	KLLN CL E G H	100144748	201				ORPHA	0	8	238	37212	612105
HP:0002861	HP:0002861	Melanoma	2	KRAS CL E G H	3845	1333	Chromosome 19, ring		CN036553	ORPHA	0	45	274	6407	190070
HP:0002861	HP:0002861	Melanoma	2	MBTPS2 CL E G H	51360	659	Amyoplasia			ORPHA	0	26	207	15455	300294
HP:0002861	HP:0002861	Melanoma	2	MC1R CL E G H	4157	79432				ORPHA	0	109	332	6929	155555
HP:0002861	HP:0002861	Melanoma	2	MDM2 CL E G H	4193	524	Acute megakaryoblastic leukemia		C0023462	ORPHA	0	8	30	6973	164785
HP:0002861	HP:0002861	Melanoma	2	MRE11 CL E G H	4361	145	Hereditary breast and ovarian cancer syndrome		C0677776	ORPHA	0	57	1104	7230	600814
HP:0002861	HP:0002861	Melanoma	2	NBN CL E G H	4683	145	Hereditary breast and ovarian cancer syndrome		C0677776	ORPHA	0	148	2045	7652	602667
HP:0002861	HP:0002861	Melanoma	2	OCA2 CL E G H	4948	79432				ORPHA	0	316	538	8101	611409
HP:0002861	HP:0002861	Melanoma	2	PALB2 CL E G H	79728	1333	Chromosome 19, ring		CN036553	ORPHA	0	417	3503	26144	610355
HP:0002861	HP:0002861	Melanoma	2	PALB2 CL E G H	79728	145	Hereditary breast and ovarian cancer syndrome		C0677776	ORPHA	0	417	3503	26144	610355
HP:0002861	HP:0002861	Melanoma	2	PALLD CL E G H	23022	1333	Chromosome 19, ring		CN036553	ORPHA	0	4	395	17068	608092
HP:0002861	HP:0002861	Melanoma	2	PIK3CA CL E G H	5290	201				ORPHA	0	57	379	8975	171834
HP:0002861	HP:0002861	Melanoma	2	PTEN CL E G H	5728	201				ORPHA	0	658	2019	9588	601728
HP:0002861	HP:0002861	Melanoma	2	PTEN CL E G H	5728	145	Hereditary breast and ovarian cancer syndrome		C0677776	ORPHA	0	658	2019	9588	601728
HP:0002861	HP:0002861	Melanoma	2	PTPN11 CL E G H	5781	500				ORPHA	0	143	475	9644	176876
HP:0002861	HP:0002861	Melanoma	2	RAD50 CL E G H	10111	145	Hereditary breast and ovarian cancer syndrome		C0677776	ORPHA	0	95	2206	9816	604040
HP:0002861	HP:0002861	Melanoma	2	RAD51 CL E G H	5888	145	Hereditary breast and ovarian cancer syndrome		C0677776	ORPHA	0	16	36	9817	179617
HP:0002861	HP:0002861	Melanoma	2	RAD51C CL E G H	5889	145	Hereditary breast and ovarian cancer syndrome		C0677776	ORPHA	0	131	1130	9820	602774
HP:0002861	HP:0002861	Melanoma	2	RAD51D CL E G H	5892	145	Hereditary breast and ovarian cancer syndrome		C0677776	ORPHA	0	86	973	9823	602954
HP:0002861	HP:0002861	Melanoma	2	RAF1 CL E G H	5894	500				ORPHA	0	54	508	9829	164760
HP:0002861	HP:0002861	Melanoma	2	RNF43 CL E G H	54894	157798				ORPHA	0	12	65	18505	612482
HP:0002861	HP:0002861	Melanoma	2	SDHB CL E G H	6390	201				ORPHA	0	279	667	10681	185470
HP:0002861	HP:0002861	Melanoma	2	SDHC CL E G H	6391	201				ORPHA	0	62	415	10682	602413
HP:0002861	HP:0002861	Melanoma	2	SDHD CL E G H	6392	201				ORPHA	0	174	361	10683	602690
HP:0002861	HP:0002861	Melanoma	2	SEC23B CL E G H	10483	201				ORPHA	0	126	143	10702	610512
HP:0002861	HP:0002861	Melanoma	2	SLC45A2 CL E G H	51151	79435				ORPHA	0	161	124	16472	606202
HP:0002861	HP:0002861	Melanoma	2	SMAD4 CL E G H	4089	1333	Chromosome 19, ring		CN036553	ORPHA	0	147	1257	6770	600993
HP:0002861	HP:0002861	Melanoma	2	TP53 CL E G H	7157	524	Acute megakaryoblastic leukemia		C0023462	ORPHA	0	541	2035	11998	191170
HP:0002861	HP:0002861	Melanoma	2	TP53 CL E G H	7157	1333	Chromosome 19, ring		CN036553	ORPHA	0	541	2035	11998	191170
HP:0002861	HP:0002861	Melanoma	2	TP53 CL E G H	7157	145	Hereditary breast and ovarian cancer syndrome		C0677776	ORPHA	0	541	2035	11998	191170
HP:0002861	HP:0002861	Melanoma	2	TRPV3 CL E G H	162514	659	Amyoplasia			ORPHA	0	17	277	18084	607066
HP:0002861	HP:0002861	Melanoma	2	TYR CL E G H	7299	79434				ORPHA	0	445	226	12442	606933

Genes (63) :ACD AKT1 BAP1 BARD1 BRAF BRCA1 BRCA2 BRIP1 CDK4 CDKN2A CDKN2B CDKN2D CHEK2 CTSC CYSLTR2 DDB2 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 GNA11 GNAQ HRAS KLLN KRAS MBTPS2 MC1R MDM2 MGMT MITF MRE11 NBN NRAS OCA2 PALB2 PALLD PIK3CA POLH POT1 PTEN PTPN11 RAD50 RAD51 RAD51C RAD51D RAF1 RNF43 SDHB SDHC SDHD SEC23B SF3B1 SLC45A2 SMAD4 TERF2IP TERT TP53 TRPV3 TYR WRN XPA XPC

Diseases (30) :618 201 145 500 1333 524 606719 678 910 278740 220295 278730 278800 659 79432 249400 90342 157798 79435 79434 278700 614327 155755 610651 137550 626 278750 278720 39044 902

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.

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