Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003764	HP:0003764	Nevus	0	ACD CL E G H	65057	25070	ORPHA:618	Familial melanoma	HP:0040281 - Very frequent	11
HP:0003764	HP:0003764	Nevus	0	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome		54
HP:0003764	HP:0003764	Nevus	0	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome		54
HP:0003764	HP:0003764	Nevus	0	AKT1 CL E G H	207	391	OMIM:176920	Proteus syndrome, somatic	.	54
HP:0003764	HP:0003764	Nevus	0	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2		132
HP:0003764	HP:0003764	Nevus	0	ARL6IP6 CL E G H	151188	24048	ORPHA:1556	Cutis marmorata telangiectatica congenita		1
HP:0003764	HP:0003764	Nevus	0	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome		145
HP:0003764	HP:0003764	Nevus	0	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome		145
HP:0003764	HP:0003764	Nevus	0	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome	.	7
HP:0003764	HP:0003764	Nevus	0	BAP1 CL E G H	8314	950	ORPHA:618	Familial melanoma	HP:0040281 - Very frequent	184
HP:0003764	HP:0003764	Nevus	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0003764	HP:0003764	Nevus	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0003764	HP:0003764	Nevus	0	BLOC1S5 CL E G H	63915	18561	OMIM:619172	HERMANSKY-PUDLAK SYNDROME 11; HPS11
HP:0003764	HP:0003764	Nevus	0	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1		276
HP:0003764	HP:0003764	Nevus	0	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3		276
HP:0003764	HP:0003764	Nevus	0	BRAF CL E G H	673	1097	OMIM:155600	Melanoma, cutaneous malignant		276
HP:0003764	HP:0003764	Nevus	0	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7		276
HP:0003764	HP:0003764	Nevus	0	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines		276
HP:0003764	HP:0003764	Nevus	0	BRAF CL E G H	673	1097	ORPHA:840	Syringocystadenoma papilliferum		276
HP:0003764	HP:0003764	Nevus	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0003764	HP:0003764	Nevus	0	CAMK2A CL E G H	815	1460	OMIM:617798	Mental retardation, autosomal dominant 53		1
HP:0003764	HP:0003764	Nevus	0	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome		317
HP:0003764	HP:0003764	Nevus	0	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	HP:0040283 - Occasional	6
HP:0003764	HP:0003764	Nevus	0	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome	.	6
HP:0003764	HP:0003764	Nevus	0	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome		2
HP:0003764	HP:0003764	Nevus	0	CDH3 CL E G H	1001	1762	ORPHA:1573	Hypotrichosis with juvenile macular degeneration		87
HP:0003764	HP:0003764	Nevus	0	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome		2
HP:0003764	HP:0003764	Nevus	0	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder		8
HP:0003764	HP:0003764	Nevus	0	CDK4 CL E G H	1019	1773	ORPHA:618	Familial melanoma	HP:0040281 - Very frequent	145
HP:0003764	HP:0003764	Nevus	0	CDK4 CL E G H	1019	1773	OMIM:609048	Melanoma, cutaneous malignant, susceptibility to, 3		145
HP:0003764	HP:0003764	Nevus	0	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome		114
HP:0003764	HP:0003764	Nevus	0	CDKN2A CL E G H	1029	1787	ORPHA:618	Familial melanoma	HP:0040281 - Very frequent	289
HP:0003764	HP:0003764	Nevus	0	CDKN2B CL E G H	1030	1788	ORPHA:618	Familial melanoma	HP:0040281 - Very frequent	1
HP:0003764	HP:0003764	Nevus	0	CHRNA7 CL E G H	1139	1960	ORPHA:199318	15q13.3 microdeletion syndrome		52
HP:0003764	HP:0003764	Nevus	0	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040283 - Occasional	68
HP:0003764	HP:0003764	Nevus	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0003764	HP:0003764	Nevus	0	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome		749
HP:0003764	HP:0003764	Nevus	0	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form	HP:0040283 - Occasional	263
HP:0003764	HP:0003764	Nevus	0	CYP1B1 CL E G H	1545	2597	ORPHA:98976	Congenital glaucoma		101
HP:0003764	HP:0003764	Nevus	0	CYP26C1 CL E G H	340665	20577	ORPHA:398189	Focal facial dermal dysplasia type IV	HP:0040282 - Frequent	2
HP:0003764	HP:0003764	Nevus	0	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum		30
HP:0003764	HP:0003764	Nevus	0	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome		164
HP:0003764	HP:0003764	Nevus	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0003764	HP:0003764	Nevus	0	DUT CL E G H	1854	3078	OMIM:620044
HP:0003764	HP:0003764	Nevus	0	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome		14
HP:0003764	HP:0003764	Nevus	0	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1		14
HP:0003764	HP:0003764	Nevus	0	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome		5
HP:0003764	HP:0003764	Nevus	0	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0003764	HP:0003764	Nevus	0	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome		4
HP:0003764	HP:0003764	Nevus	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0003764	HP:0003764	Nevus	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome		172
HP:0003764	HP:0003764	Nevus	0	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum		106
HP:0003764	HP:0003764	Nevus	0	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum		54
HP:0003764	HP:0003764	Nevus	0	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum		158
HP:0003764	HP:0003764	Nevus	0	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum		83
HP:0003764	HP:0003764	Nevus	0	ERF CL E G H	2077	3444	ORPHA:207	Crouzon disease		12
HP:0003764	HP:0003764	Nevus	0	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome		81
HP:0003764	HP:0003764	Nevus	0	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome		1361
HP:0003764	HP:0003764	Nevus	0	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis		172
HP:0003764	HP:0003764	Nevus	0	FGFR2 CL E G H	2263	3689	ORPHA:207	Crouzon disease		175
HP:0003764	HP:0003764	Nevus	0	FGFR2 CL E G H	2263	3689	ORPHA:1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome		175
HP:0003764	HP:0003764	Nevus	0	FGFR3 CL E G H	2261	3690	OMIM:612247	Crouzon syndrome with acanthosis nigricans		145
HP:0003764	HP:0003764	Nevus	0	FGFR3 CL E G H	2261	3690	OMIM:162900	Epidermal nevus, somatic		145
HP:0003764	HP:0003764	Nevus	0	FKBP10 CL E G H	60681	18169	ORPHA:1149	Kuskokwim syndrome		61
HP:0003764	HP:0003764	Nevus	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0003764	HP:0003764	Nevus	0	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0003764	HP:0003764	Nevus	0	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome
HP:0003764	HP:0003764	Nevus	0	GNA11 CL E G H	2767	4379	ORPHA:1556	Cutis marmorata telangiectatica congenita		16
HP:0003764	HP:0003764	Nevus	0	GNAQ CL E G H	2776	4390	ORPHA:624	Familial multiple nevi flammei		7
HP:0003764	HP:0003764	Nevus	0	GNAQ CL E G H	2776	4390	OMIM:163000	Nevi flammei, familial multiple		7
HP:0003764	HP:0003764	Nevus	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome		1
HP:0003764	HP:0003764	Nevus	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome		1
HP:0003764	HP:0003764	Nevus	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome		1
HP:0003764	HP:0003764	Nevus	0	H1-4 CL E G H	3008	4718	OMIM:617537	Rahman syndrome	.
HP:0003764	HP:0003764	Nevus	0	H19 CL E G H	283120	4713	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15		4
HP:0003764	HP:0003764	Nevus	0	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome
HP:0003764	HP:0003764	Nevus	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0003764	HP:0003764	Nevus	0	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5	.	37
HP:0003764	HP:0003764	Nevus	0	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0003764	HP:0003764	Nevus	0	HEXB CL E G H	3074	4879	ORPHA:309155	Sandhoff disease, infantile form		80
HP:0003764	HP:0003764	Nevus	0	HPS1 CL E G H	3257	5163	OMIM:203300	Hermansky-Pudlak syndrome 1		121
HP:0003764	HP:0003764	Nevus	0	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome	.	113
HP:0003764	HP:0003764	Nevus	0	HRAS CL E G H	3265	5173	OMIM:162900	Epidermal nevus, somatic		113
HP:0003764	HP:0003764	Nevus	0	HRAS CL E G H	3265	5173	ORPHA:2612	Linear nevus sebaceus syndrome		113
HP:0003764	HP:0003764	Nevus	0	HRAS CL E G H	3265	5173	OMIM:137550	Melanocytic nevus syndrome, congenital		113
HP:0003764	HP:0003764	Nevus	0	HRAS CL E G H	3265	5173	ORPHA:2874	Phakomatosis pigmentokeratotica		113
HP:0003764	HP:0003764	Nevus	0	HRAS CL E G H	3265	5173	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.	113
HP:0003764	HP:0003764	Nevus	0	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex		23
HP:0003764	HP:0003764	Nevus	0	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2		23
HP:0003764	HP:0003764	Nevus	0	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome		9
HP:0003764	HP:0003764	Nevus	0	IGF2 CL E G H	3481	5466	OMIM:616489	Growth restriction, severe, with distinctive facies		9
HP:0003764	HP:0003764	Nevus	0	IGF2 CL E G H	3481	5466	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15		9
HP:0003764	HP:0003764	Nevus	0	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome		283
HP:0003764	HP:0003764	Nevus	0	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation		283
HP:0003764	HP:0003764	Nevus	0	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome		730
HP:0003764	HP:0003764	Nevus	0	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome		1
HP:0003764	HP:0003764	Nevus	0	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome		1
HP:0003764	HP:0003764	Nevus	0	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis		196
HP:0003764	HP:0003764	Nevus	0	KRAS CL E G H	3845	6407	ORPHA:2612	Linear nevus sebaceus syndrome		196
HP:0003764	HP:0003764	Nevus	0	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome		196
HP:0003764	HP:0003764	Nevus	0	KRAS CL E G H	3845	6407	OMIM:600268	Oculoectodermal syndrome		196
HP:0003764	HP:0003764	Nevus	0	KRAS CL E G H	3845	6407	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.	196
HP:0003764	HP:0003764	Nevus	0	KRT14 CL E G H	3861	6416	ORPHA:89838	Autosomal recessive generalized epidermolysis bullosa simplex	HP:0040283 - Occasional	110
HP:0003764	HP:0003764	Nevus	0	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK		70
HP:0003764	HP:0003764	Nevus	0	LEMD3 CL E G H	23592	28887	OMIM:166700	Buschke-Ollendorff syndrome	.	68
HP:0003764	HP:0003764	Nevus	0	LEMD3 CL E G H	23592	28887	ORPHA:1306	Buschke-Ollendorff syndrome		68
HP:0003764	HP:0003764	Nevus	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0003764	HP:0003764	Nevus	0	LTBP2 CL E G H	4053	6715	ORPHA:98976	Congenital glaucoma		123
HP:0003764	HP:0003764	Nevus	0	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome		43
HP:0003764	HP:0003764	Nevus	0	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2		43
HP:0003764	HP:0003764	Nevus	0	MC1R CL E G H	4157	6929	ORPHA:618	Familial melanoma	HP:0040281 - Very frequent	124
HP:0003764	HP:0003764	Nevus	0	MC1R CL E G H	4157	6929	ORPHA:626	Large congenital melanocytic nevus	HP:0040281 - Very frequent	124
HP:0003764	HP:0003764	Nevus	0	MC1R CL E G H	4157	6929	ORPHA:79432	Oculocutaneous albinism type 2		124
HP:0003764	HP:0003764	Nevus	0	MED25 CL E G H	81857	28845	OMIM:616449	Basel-Vanagaite-Smirin-Yosef syndrome	.	43
HP:0003764	HP:0003764	Nevus	0	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome		43
HP:0003764	HP:0003764	Nevus	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome		1
HP:0003764	HP:0003764	Nevus	0	MGMT CL E G H	4255	7059	ORPHA:618	Familial melanoma	HP:0040281 - Very frequent	3
HP:0003764	HP:0003764	Nevus	0	MITF CL E G H	4286	7105	ORPHA:618	Familial melanoma	HP:0040281 - Very frequent	91
HP:0003764	HP:0003764	Nevus	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome		1
HP:0003764	HP:0003764	Nevus	0	MPL CL E G H	4352	7217	ORPHA:3319	Congenital amegakaryocytic thrombocytopenia		97
HP:0003764	HP:0003764	Nevus	0	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome
HP:0003764	HP:0003764	Nevus	0	MSL3 CL E G H	10943	7370	OMIM:301032	BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0003764	HP:0003764	Nevus	0	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040283 - Occasional	166
HP:0003764	HP:0003764	Nevus	0	MYOC CL E G H	4653	7610	ORPHA:98976	Congenital glaucoma		47
HP:0003764	HP:0003764	Nevus	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome		13
HP:0003764	HP:0003764	Nevus	0	NEK9 CL E G H	91754	18591	ORPHA:64754	Nevus comedonicus syndrome		9
HP:0003764	HP:0003764	Nevus	0	NEK9 CL E G H	91754	18591	OMIM:617025	NEVUS COMEDONICUS; NC		9
HP:0003764	HP:0003764	Nevus	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0003764	HP:0003764	Nevus	0	NRAS CL E G H	4893	7989	OMIM:162900	Epidermal nevus, somatic		102
HP:0003764	HP:0003764	Nevus	0	NRAS CL E G H	4893	7989	ORPHA:626	Large congenital melanocytic nevus	HP:0040281 - Very frequent	102
HP:0003764	HP:0003764	Nevus	0	NRAS CL E G H	4893	7989	ORPHA:2612	Linear nevus sebaceus syndrome		102
HP:0003764	HP:0003764	Nevus	0	NRAS CL E G H	4893	7989	OMIM:137550	Melanocytic nevus syndrome, congenital		102
HP:0003764	HP:0003764	Nevus	0	NRAS CL E G H	4893	7989	OMIM:249400	Neurocutaneous melanosis, somatic		102
HP:0003764	HP:0003764	Nevus	0	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome		102
HP:0003764	HP:0003764	Nevus	0	NRAS CL E G H	4893	7989	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.	102
HP:0003764	HP:0003764	Nevus	0	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects		34
HP:0003764	HP:0003764	Nevus	0	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome		2
HP:0003764	HP:0003764	Nevus	0	OCA2 CL E G H	4948	8101	ORPHA:79432	Oculocutaneous albinism type 2		121
HP:0003764	HP:0003764	Nevus	0	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome
HP:0003764	HP:0003764	Nevus	0	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex	HP:0040282 - Frequent	13
HP:0003764	HP:0003764	Nevus	0	PDE4D CL E G H	5144	8783	ORPHA:950	Acrodysostosis		113
HP:0003764	HP:0003764	Nevus	0	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome		162
HP:0003764	HP:0003764	Nevus	0	PIK3CA CL E G H	5290	8975	OMIM:162900	Epidermal nevus, somatic		162
HP:0003764	HP:0003764	Nevus	0	PIK3CA CL E G H	5290	8975	ORPHA:276280	Hemihyperplasia-multiple lipomatosis syndrome	HP:0040283 - Occasional	162
HP:0003764	HP:0003764	Nevus	0	PIK3CA CL E G H	5290	8975	OMIM:182000	KERATOSIS, SEBORRHEIC		162
HP:0003764	HP:0003764	Nevus	0	PIK3CA CL E G H	5290	8975	ORPHA:60040	Megalencephaly-capillary malformation-polymicrogyria syndrome		162
HP:0003764	HP:0003764	Nevus	0	PLP1 CL E G H	5354	9086	ORPHA:280229	Pelizaeus-Merzbacher disease in female carriers		60
HP:0003764	HP:0003764	Nevus	0	POT1 CL E G H	25913	17284	ORPHA:618	Familial melanoma	HP:0040281 - Very frequent	23
HP:0003764	HP:0003764	Nevus	0	PRKAR1A CL E G H	5573	9388	ORPHA:950	Acrodysostosis		134
HP:0003764	HP:0003764	Nevus	0	PRKAR1A CL E G H	5573	9388	OMIM:101800	Acrodysostosis 1, with or without hormone resistance		134
HP:0003764	HP:0003764	Nevus	0	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex	HP:0040282 - Frequent	134
HP:0003764	HP:0003764	Nevus	0	PRKAR1A CL E G H	5573	9388	OMIM:160980	Carney complex, type 1	.	134
HP:0003764	HP:0003764	Nevus	0	PTCH1 CL E G H	5727	9585	ORPHA:377	Gorlin syndrome		665
HP:0003764	HP:0003764	Nevus	0	PTCH2 CL E G H	8643	9586	ORPHA:377	Gorlin syndrome		40
HP:0003764	HP:0003764	Nevus	0	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome	HP:0040281 - Very frequent	948
HP:0003764	HP:0003764	Nevus	0	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome		948
HP:0003764	HP:0003764	Nevus	0	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome		948
HP:0003764	HP:0003764	Nevus	0	PTEN CL E G H	5728	9588	ORPHA:2969	Proteus-like syndrome		948
HP:0003764	HP:0003764	Nevus	0	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome		291
HP:0003764	HP:0003764	Nevus	0	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines		291
HP:0003764	HP:0003764	Nevus	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome		19
HP:0003764	HP:0003764	Nevus	0	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome		19
HP:0003764	HP:0003764	Nevus	0	PUS3 CL E G H	83480	25461	ORPHA:488627	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome		1
HP:0003764	HP:0003764	Nevus	0	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome		212
HP:0003764	HP:0003764	Nevus	0	RAF1 CL E G H	5894	9829	OMIM:611553	Noonan syndrome 5		212
HP:0003764	HP:0003764	Nevus	0	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines		212
HP:0003764	HP:0003764	Nevus	0	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome		3
HP:0003764	HP:0003764	Nevus	0	RBM28 CL E G H	55131	21863	OMIM:612079	Alopecia, neurologic defects, and endocrinopathy syndrome		1
HP:0003764	HP:0003764	Nevus	0	RBM28 CL E G H	55131	21863	ORPHA:157954	ANE syndrome		1
HP:0003764	HP:0003764	Nevus	0	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0003764	HP:0003764	Nevus	0	RBM8A CL E G H	9939	9905	ORPHA:3320	Thrombocytopenia-absent radius syndrome		10
HP:0003764	HP:0003764	Nevus	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0003764	HP:0003764	Nevus	0	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome		39
HP:0003764	HP:0003764	Nevus	0	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome		120
HP:0003764	HP:0003764	Nevus	0	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive		120
HP:0003764	HP:0003764	Nevus	0	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome
HP:0003764	HP:0003764	Nevus	0	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome		1
HP:0003764	HP:0003764	Nevus	0	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome		237
HP:0003764	HP:0003764	Nevus	0	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome		147
HP:0003764	HP:0003764	Nevus	0	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome		129
HP:0003764	HP:0003764	Nevus	0	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome		60
HP:0003764	HP:0003764	Nevus	0	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29		143
HP:0003764	HP:0003764	Nevus	0	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type
HP:0003764	HP:0003764	Nevus	0	SLC26A2 CL E G H	1836	10994	OMIM:222600	Diastrophic dysplasia		166
HP:0003764	HP:0003764	Nevus	0	SLC45A2 CL E G H	51151	16472	ORPHA:79435	Oculocutaneous albinism type 4	HP:0040284 - Very rare	42
HP:0003764	HP:0003764	Nevus	0	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3		91
HP:0003764	HP:0003764	Nevus	0	SMO CL E G H	6608	11119	OMIM:601707	Curry-Jones syndrome		22
HP:0003764	HP:0003764	Nevus	0	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome		315
HP:0003764	HP:0003764	Nevus	0	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome		30
HP:0003764	HP:0003764	Nevus	0	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome
HP:0003764	HP:0003764	Nevus	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0003764	HP:0003764	Nevus	0	STK11 CL E G H	6794	11389	OMIM:155600	Melanoma, cutaneous malignant		740
HP:0003764	HP:0003764	Nevus	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0003764	HP:0003764	Nevus	0	SUFU CL E G H	51684	16466	ORPHA:377	Gorlin syndrome		124
HP:0003764	HP:0003764	Nevus	0	SUZ12 CL E G H	23512	17101	OMIM:618786	IMAGAWA-MATSUMOTO SYNDROME; IMMAS		1
HP:0003764	HP:0003764	Nevus	0	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0003764	HP:0003764	Nevus	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0003764	HP:0003764	Nevus	0	TEK CL E G H	7010	11724	ORPHA:98976	Congenital glaucoma		78
HP:0003764	HP:0003764	Nevus	0	TERF2IP CL E G H	54386	19246	ORPHA:618	Familial melanoma	HP:0040281 - Very frequent
HP:0003764	HP:0003764	Nevus	0	TERT CL E G H	7015	11730	ORPHA:618	Familial melanoma	HP:0040281 - Very frequent	238
HP:0003764	HP:0003764	Nevus	0	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5		85
HP:0003764	HP:0003764	Nevus	0	THPO CL E G H	7066	11795	ORPHA:3319	Congenital amegakaryocytic thrombocytopenia		23
HP:0003764	HP:0003764	Nevus	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0003764	HP:0003764	Nevus	0	TNFRSF11A CL E G H	8792	11908	ORPHA:2801	Juvenile Paget disease		72
HP:0003764	HP:0003764	Nevus	0	TNFRSF11B CL E G H	4982	11909	ORPHA:2801	Juvenile Paget disease		44
HP:0003764	HP:0003764	Nevus	0	TP63 CL E G H	8626	15979	ORPHA:978	ADULT syndrome		140
HP:0003764	HP:0003764	Nevus	0	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome	HP:0040283 - Occasional	140
HP:0003764	HP:0003764	Nevus	0	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism		78
HP:0003764	HP:0003764	Nevus	0	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis		1090
HP:0003764	HP:0003764	Nevus	0	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex		1090
HP:0003764	HP:0003764	Nevus	0	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1		1090
HP:0003764	HP:0003764	Nevus	0	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis		2738
HP:0003764	HP:0003764	Nevus	0	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex		2738
HP:0003764	HP:0003764	Nevus	0	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2		2738
HP:0003764	HP:0003764	Nevus	0	TYR CL E G H	7299	12442	ORPHA:79434	Oculocutaneous albinism type 1B		146
HP:0003764	HP:0003764	Nevus	0	TYRP1 CL E G H	7306	12450	ORPHA:79433	Oculocutaneous albinism type 3		62
HP:0003764	HP:0003764	Nevus	0	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome		1
HP:0003764	HP:0003764	Nevus	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0003764	HP:0003764	Nevus	0	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome		98
HP:0003764	HP:0003764	Nevus	0	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1		98
HP:0003764	HP:0003764	Nevus	0	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum		34
HP:0003764	HP:0003764	Nevus	0	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum		86
HP:0003764	HP:0025511	Nevus sebaceus	1	CL E G H
HP:0003764	HP:0025471	Congenital panfollicular nevus	1	CL E G H
HP:0003764	HP:0009920	Nevus of Ota	1	CL E G H
HP:0003764	HP:0000995	Melanocytic nevus	1	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	54
HP:0003764	HP:0000995	Melanocytic nevus	1	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040281 - Very frequent	54
HP:0003764	HP:0010816	Epidermal nevus	1	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040281 - Very frequent	54
HP:0003764	HP:0010816	Epidermal nevus	1	AKT1 CL E G H	207	391	OMIM:176920	Proteus syndrome, somatic	.	54
HP:0003764	HP:0100814	Blue nevus	1	ARL6IP6 CL E G H	151188	24048	ORPHA:1556	Cutis marmorata telangiectatica congenita	HP:0040283 - Occasional	1
HP:0003764	HP:0001052	Nevus flammeus	1	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome	HP:0040281 - Very frequent	145
HP:0003764	HP:0001052	Nevus flammeus	1	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome	.	145
HP:0003764	HP:0001052	Nevus flammeus	1	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome		7
HP:0003764	HP:0001052	Nevus flammeus	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003764	HP:0001052	Nevus flammeus	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003764	HP:0000995	Melanocytic nevus	1	BLOC1S5 CL E G H	63915	18561	OMIM:619172	HERMANSKY-PUDLAK SYNDROME 11; HPS11
HP:0003764	HP:0001054	Numerous nevi	1	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1		276
HP:0003764	HP:0001054	Numerous nevi	1	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3		276
HP:0003764	HP:0001062	Atypical nevus	1	BRAF CL E G H	673	1097	OMIM:155600	Melanoma, cutaneous malignant	.	276
HP:0003764	HP:0001074	Atypical nevi in non-sun exposed areas	1	BRAF CL E G H	673	1097	OMIM:155600	Melanoma, cutaneous malignant	.	276
HP:0003764	HP:0001054	Numerous nevi	1	BRAF CL E G H	673	1097	OMIM:155600	Melanoma, cutaneous malignant	.	276
HP:0003764	HP:0001054	Numerous nevi	1	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7		276
HP:0003764	HP:0000995	Melanocytic nevus	1	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040281 - Very frequent	276
HP:0003764	HP:0010816	Epidermal nevus	1	BRAF CL E G H	673	1097	ORPHA:840	Syringocystadenoma papilliferum		276
HP:0003764	HP:0001052	Nevus flammeus	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003764	HP:0100814	Blue nevus	1	CAMK2A CL E G H	815	1460	OMIM:617798	Mental retardation, autosomal dominant 53		1
HP:0003764	HP:0000995	Melanocytic nevus	1	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional	317
HP:0003764	HP:0000995	Melanocytic nevus	1	CDH3 CL E G H	1001	1762	ORPHA:1573	Hypotrichosis with juvenile macular degeneration	HP:0040283 - Occasional	87
HP:0003764	HP:0001052	Nevus flammeus	1	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome		2
HP:0003764	HP:0001052	Nevus flammeus	1	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder		8
HP:0003764	HP:0001054	Numerous nevi	1	CDK4 CL E G H	1019	1773	OMIM:609048	Melanoma, cutaneous malignant, susceptibility to, 3	.	145
HP:0003764	HP:0001062	Atypical nevus	1	CDK4 CL E G H	1019	1773	OMIM:609048	Melanoma, cutaneous malignant, susceptibility to, 3	.	145
HP:0003764	HP:0001074	Atypical nevi in non-sun exposed areas	1	CDK4 CL E G H	1019	1773	OMIM:609048	Melanoma, cutaneous malignant, susceptibility to, 3	.	145
HP:0003764	HP:0001052	Nevus flammeus	1	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome	.	114
HP:0003764	HP:0000995	Melanocytic nevus	1	CHRNA7 CL E G H	1139	1960	ORPHA:199318	15q13.3 microdeletion syndrome	HP:0040283 - Occasional	52
HP:0003764	HP:0001052	Nevus flammeus	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003764	HP:0000995	Melanocytic nevus	1	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040281 - Very frequent	749
HP:0003764	HP:0001052	Nevus flammeus	1	CYP1B1 CL E G H	1545	2597	ORPHA:98976	Congenital glaucoma	HP:0040281 - Very frequent	101
HP:0003764	HP:0000995	Melanocytic nevus	1	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional	30
HP:0003764	HP:0001052	Nevus flammeus	1	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome		164
HP:0003764	HP:0001052	Nevus flammeus	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003764	HP:0001052	Nevus flammeus	1	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome		14
HP:0003764	HP:0001052	Nevus flammeus	1	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1	.	14
HP:0003764	HP:0001052	Nevus flammeus	1	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome		5
HP:0003764	HP:0001052	Nevus flammeus	1	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0003764	HP:0000995	Melanocytic nevus	1	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome		4
HP:0003764	HP:0001052	Nevus flammeus	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003764	HP:0001052	Nevus flammeus	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	172
HP:0003764	HP:0000995	Melanocytic nevus	1	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional	106
HP:0003764	HP:0000995	Melanocytic nevus	1	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional	54
HP:0003764	HP:0000995	Melanocytic nevus	1	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional	158
HP:0003764	HP:0000995	Melanocytic nevus	1	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional	83
HP:0003764	HP:0000995	Melanocytic nevus	1	ERF CL E G H	2077	3444	ORPHA:207	Crouzon disease	HP:0040283 - Occasional	12
HP:0003764	HP:0000995	Melanocytic nevus	1	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome		81
HP:0003764	HP:0000995	Melanocytic nevus	1	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome		1361
HP:0003764	HP:0001052	Nevus flammeus	1	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040282 - Frequent	172
HP:0003764	HP:0000995	Melanocytic nevus	1	FGFR2 CL E G H	2263	3689	ORPHA:207	Crouzon disease	HP:0040283 - Occasional	175
HP:0003764	HP:0000995	Melanocytic nevus	1	FGFR2 CL E G H	2263	3689	ORPHA:1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome	HP:0040281 - Very frequent	175
HP:0003764	HP:0000995	Melanocytic nevus	1	FGFR3 CL E G H	2261	3690	OMIM:612247	Crouzon syndrome with acanthosis nigricans	.	145
HP:0003764	HP:0000995	Melanocytic nevus	1	FGFR3 CL E G H	2261	3690	OMIM:162900	Epidermal nevus, somatic	.	145
HP:0003764	HP:0001054	Numerous nevi	1	FGFR3 CL E G H	2261	3690	OMIM:162900	Epidermal nevus, somatic	.	145
HP:0003764	HP:0000995	Melanocytic nevus	1	FKBP10 CL E G H	60681	18169	ORPHA:1149	Kuskokwim syndrome	HP:0040283 - Occasional	61
HP:0003764	HP:0001052	Nevus flammeus	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003764	HP:0100814	Blue nevus	1	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0003764	HP:0001052	Nevus flammeus	1	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome
HP:0003764	HP:0100814	Blue nevus	1	GNA11 CL E G H	2767	4379	ORPHA:1556	Cutis marmorata telangiectatica congenita	HP:0040283 - Occasional	16
HP:0003764	HP:0001052	Nevus flammeus	1	GNAQ CL E G H	2776	4390	ORPHA:624	Familial multiple nevi flammei	HP:0040281 - Very frequent	7
HP:0003764	HP:0001052	Nevus flammeus	1	GNAQ CL E G H	2776	4390	OMIM:163000	Nevi flammei, familial multiple	.	7
HP:0003764	HP:0001052	Nevus flammeus	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0003764	HP:0001052	Nevus flammeus	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0003764	HP:0001052	Nevus flammeus	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0003764	HP:0001052	Nevus flammeus	1	H19 CL E G H	283120	4713	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15	HP:0040283 - Occasional	4
HP:0003764	HP:0001052	Nevus flammeus	1	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome	.
HP:0003764	HP:0100814	Blue nevus	1	HEXB CL E G H	3074	4879	ORPHA:309155	Sandhoff disease, infantile form		80
HP:0003764	HP:0000995	Melanocytic nevus	1	HPS1 CL E G H	3257	5163	OMIM:203300	Hermansky-Pudlak syndrome 1	.	121
HP:0003764	HP:0000995	Melanocytic nevus	1	HRAS CL E G H	3265	5173	OMIM:162900	Epidermal nevus, somatic	.	113
HP:0003764	HP:0001054	Numerous nevi	1	HRAS CL E G H	3265	5173	OMIM:162900	Epidermal nevus, somatic	.	113
HP:0003764	HP:0000995	Melanocytic nevus	1	HRAS CL E G H	3265	5173	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040281 - Very frequent	113
HP:0003764	HP:0000995	Melanocytic nevus	1	HRAS CL E G H	3265	5173	OMIM:137550	Melanocytic nevus syndrome, congenital		113
HP:0003764	HP:0025510	Nevus spilus	1	HRAS CL E G H	3265	5173	OMIM:137550	Melanocytic nevus syndrome, congenital	.	113
HP:0003764	HP:0025510	Nevus spilus	1	HRAS CL E G H	3265	5173	ORPHA:2874	Phakomatosis pigmentokeratotica		113
HP:0003764	HP:0010816	Epidermal nevus	1	HRAS CL E G H	3265	5173	ORPHA:2874	Phakomatosis pigmentokeratotica		113
HP:0003764	HP:0000995	Melanocytic nevus	1	HRAS CL E G H	3265	5173	ORPHA:2874	Phakomatosis pigmentokeratotica		113
HP:0003764	HP:0100814	Blue nevus	1	HRAS CL E G H	3265	5173	ORPHA:2874	Phakomatosis pigmentokeratotica		113
HP:0003764	HP:0010816	Epidermal nevus	1	HRAS CL E G H	3265	5173	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome		113
HP:0003764	HP:0100898	Connective tissue nevi	1	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex		23
HP:0003764	HP:0100898	Connective tissue nevi	1	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2		23
HP:0003764	HP:0001052	Nevus flammeus	1	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome	.	9
HP:0003764	HP:0000995	Melanocytic nevus	1	IGF2 CL E G H	3481	5466	OMIM:616489	Growth restriction, severe, with distinctive facies	.	9
HP:0003764	HP:0001052	Nevus flammeus	1	IGF2 CL E G H	3481	5466	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15	HP:0040283 - Occasional	9
HP:0003764	HP:0001054	Numerous nevi	1	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040283 - Occasional	283
HP:0003764	HP:0001054	Numerous nevi	1	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040283 - Occasional	283
HP:0003764	HP:0001052	Nevus flammeus	1	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome	.	730
HP:0003764	HP:0001052	Nevus flammeus	1	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome	.	1
HP:0003764	HP:0000995	Melanocytic nevus	1	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	1
HP:0003764	HP:0001052	Nevus flammeus	1	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040282 - Frequent	196
HP:0003764	HP:0000995	Melanocytic nevus	1	KRAS CL E G H	3845	6407	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040281 - Very frequent	196
HP:0003764	HP:0000995	Melanocytic nevus	1	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional	196
HP:0003764	HP:0010816	Epidermal nevus	1	KRAS CL E G H	3845	6407	OMIM:600268	Oculoectodermal syndrome	.	196
HP:0003764	HP:0010816	Epidermal nevus	1	KRAS CL E G H	3845	6407	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome		196
HP:0003764	HP:0001052	Nevus flammeus	1	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK		70
HP:0003764	HP:0100898	Connective tissue nevi	1	LEMD3 CL E G H	23592	28887	OMIM:166700	Buschke-Ollendorff syndrome	.	68
HP:0003764	HP:0100898	Connective tissue nevi	1	LEMD3 CL E G H	23592	28887	ORPHA:1306	Buschke-Ollendorff syndrome	HP:0040280 - Obligate	68
HP:0003764	HP:0001052	Nevus flammeus	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003764	HP:0001052	Nevus flammeus	1	LTBP2 CL E G H	4053	6715	ORPHA:98976	Congenital glaucoma	HP:0040281 - Very frequent	123
HP:0003764	HP:0000995	Melanocytic nevus	1	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional	43
HP:0003764	HP:0000995	Melanocytic nevus	1	MC1R CL E G H	4157	6929	ORPHA:626	Large congenital melanocytic nevus		124
HP:0003764	HP:0000995	Melanocytic nevus	1	MC1R CL E G H	4157	6929	ORPHA:79432	Oculocutaneous albinism type 2		124
HP:0003764	HP:0001052	Nevus flammeus	1	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome		43
HP:0003764	HP:0001052	Nevus flammeus	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0003764	HP:0001052	Nevus flammeus	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0003764	HP:0000995	Melanocytic nevus	1	MPL CL E G H	4352	7217	ORPHA:3319	Congenital amegakaryocytic thrombocytopenia	HP:0040282 - Frequent	97
HP:0003764	HP:0000995	Melanocytic nevus	1	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional
HP:0003764	HP:0001052	Nevus flammeus	1	MYOC CL E G H	4653	7610	ORPHA:98976	Congenital glaucoma	HP:0040281 - Very frequent	47
HP:0003764	HP:0001052	Nevus flammeus	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	13
HP:0003764	HP:0001052	Nevus flammeus	1	NEK9 CL E G H	91754	18591	ORPHA:64754	Nevus comedonicus syndrome	HP:0040283 - Occasional	9
HP:0003764	HP:0010816	Epidermal nevus	1	NEK9 CL E G H	91754	18591	OMIM:617025	NEVUS COMEDONICUS; NC		9
HP:0003764	HP:0000995	Melanocytic nevus	1	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0003764	HP:0001054	Numerous nevi	1	NRAS CL E G H	4893	7989	OMIM:162900	Epidermal nevus, somatic	.	102
HP:0003764	HP:0000995	Melanocytic nevus	1	NRAS CL E G H	4893	7989	OMIM:162900	Epidermal nevus, somatic	.	102
HP:0003764	HP:0000995	Melanocytic nevus	1	NRAS CL E G H	4893	7989	ORPHA:626	Large congenital melanocytic nevus		102
HP:0003764	HP:0000995	Melanocytic nevus	1	NRAS CL E G H	4893	7989	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040281 - Very frequent	102
HP:0003764	HP:0025510	Nevus spilus	1	NRAS CL E G H	4893	7989	OMIM:137550	Melanocytic nevus syndrome, congenital	.	102
HP:0003764	HP:0000995	Melanocytic nevus	1	NRAS CL E G H	4893	7989	OMIM:137550	Melanocytic nevus syndrome, congenital		102
HP:0003764	HP:0000995	Melanocytic nevus	1	NRAS CL E G H	4893	7989	OMIM:249400	Neurocutaneous melanosis, somatic		102
HP:0003764	HP:0000995	Melanocytic nevus	1	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional	102
HP:0003764	HP:0010816	Epidermal nevus	1	NRAS CL E G H	4893	7989	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome		102
HP:0003764	HP:0010816	Epidermal nevus	1	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects		34
HP:0003764	HP:0001052	Nevus flammeus	1	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040283 - Occasional	2
HP:0003764	HP:0000995	Melanocytic nevus	1	OCA2 CL E G H	4948	8101	ORPHA:79432	Oculocutaneous albinism type 2		121
HP:0003764	HP:0001054	Numerous nevi	1	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome	.
HP:0003764	HP:0100814	Blue nevus	1	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex	HP:0040282 - Frequent	13
HP:0003764	HP:0001074	Atypical nevi in non-sun exposed areas	1	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex		13
HP:0003764	HP:0000995	Melanocytic nevus	1	PDE4D CL E G H	5144	8783	ORPHA:950	Acrodysostosis	HP:0040283 - Occasional	113
HP:0003764	HP:0000995	Melanocytic nevus	1	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	162
HP:0003764	HP:0000995	Melanocytic nevus	1	PIK3CA CL E G H	5290	8975	OMIM:162900	Epidermal nevus, somatic	.	162
HP:0003764	HP:0001054	Numerous nevi	1	PIK3CA CL E G H	5290	8975	OMIM:162900	Epidermal nevus, somatic	.	162
HP:0003764	HP:0010816	Epidermal nevus	1	PIK3CA CL E G H	5290	8975	OMIM:182000	KERATOSIS, SEBORRHEIC		162
HP:0003764	HP:0001052	Nevus flammeus	1	PIK3CA CL E G H	5290	8975	ORPHA:60040	Megalencephaly-capillary malformation-polymicrogyria syndrome	HP:0040281 - Very frequent	162
HP:0003764	HP:0001052	Nevus flammeus	1	PLP1 CL E G H	5354	9086	ORPHA:280229	Pelizaeus-Merzbacher disease in female carriers		60
HP:0003764	HP:0000995	Melanocytic nevus	1	PRKAR1A CL E G H	5573	9388	ORPHA:950	Acrodysostosis	HP:0040283 - Occasional	134
HP:0003764	HP:0000995	Melanocytic nevus	1	PRKAR1A CL E G H	5573	9388	OMIM:101800	Acrodysostosis 1, with or without hormone resistance	.	134
HP:0003764	HP:0001074	Atypical nevi in non-sun exposed areas	1	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex		134
HP:0003764	HP:0100814	Blue nevus	1	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex	HP:0040282 - Frequent	134
HP:0003764	HP:0000995	Melanocytic nevus	1	PTCH1 CL E G H	5727	9585	ORPHA:377	Gorlin syndrome	HP:0040281 - Very frequent	665
HP:0003764	HP:0000995	Melanocytic nevus	1	PTCH2 CL E G H	8643	9586	ORPHA:377	Gorlin syndrome	HP:0040281 - Very frequent	40
HP:0003764	HP:0000995	Melanocytic nevus	1	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	948
HP:0003764	HP:0000995	Melanocytic nevus	1	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040281 - Very frequent	948
HP:0003764	HP:0010816	Epidermal nevus	1	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040281 - Very frequent	948
HP:0003764	HP:0010816	Epidermal nevus	1	PTEN CL E G H	5728	9588	ORPHA:2969	Proteus-like syndrome	HP:0040281 - Very frequent	948
HP:0003764	HP:0100898	Connective tissue nevi	1	PTEN CL E G H	5728	9588	ORPHA:2969	Proteus-like syndrome		948
HP:0003764	HP:0000995	Melanocytic nevus	1	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional	291
HP:0003764	HP:0000995	Melanocytic nevus	1	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040281 - Very frequent	291
HP:0003764	HP:0001052	Nevus flammeus	1	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome		19
HP:0003764	HP:0001052	Nevus flammeus	1	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome	HP:0040283 - Occasional	19
HP:0003764	HP:0100814	Blue nevus	1	PUS3 CL E G H	83480	25461	ORPHA:488627	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome	HP:0040283 - Occasional	1
HP:0003764	HP:0000995	Melanocytic nevus	1	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional	212
HP:0003764	HP:0000995	Melanocytic nevus	1	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040281 - Very frequent	212
HP:0003764	HP:0000995	Melanocytic nevus	1	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional	3
HP:0003764	HP:0000995	Melanocytic nevus	1	RBM28 CL E G H	55131	21863	OMIM:612079	Alopecia, neurologic defects, and endocrinopathy syndrome	.	1
HP:0003764	HP:0000995	Melanocytic nevus	1	RBM28 CL E G H	55131	21863	ORPHA:157954	ANE syndrome		1
HP:0003764	HP:0001052	Nevus flammeus	1	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0003764	HP:0001052	Nevus flammeus	1	RBM8A CL E G H	9939	9905	ORPHA:3320	Thrombocytopenia-absent radius syndrome		10
HP:0003764	HP:0001052	Nevus flammeus	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003764	HP:0000995	Melanocytic nevus	1	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional	39
HP:0003764	HP:0001052	Nevus flammeus	1	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040283 - Occasional	120
HP:0003764	HP:0001052	Nevus flammeus	1	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive	.	120
HP:0003764	HP:0000995	Melanocytic nevus	1	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional
HP:0003764	HP:0000995	Melanocytic nevus	1	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional	1
HP:0003764	HP:0000995	Melanocytic nevus	1	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	237
HP:0003764	HP:0000995	Melanocytic nevus	1	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	147
HP:0003764	HP:0000995	Melanocytic nevus	1	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	129
HP:0003764	HP:0000995	Melanocytic nevus	1	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	60
HP:0003764	HP:0001052	Nevus flammeus	1	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29		143
HP:0003764	HP:0100898	Connective tissue nevi	1	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type
HP:0003764	HP:0001052	Nevus flammeus	1	SLC26A2 CL E G H	1836	10994	OMIM:222600	Diastrophic dysplasia		166
HP:0003764	HP:0001052	Nevus flammeus	1	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3		91
HP:0003764	HP:0010816	Epidermal nevus	1	SMO CL E G H	6608	11119	OMIM:601707	Curry-Jones syndrome		22
HP:0003764	HP:0000995	Melanocytic nevus	1	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional	315
HP:0003764	HP:0000995	Melanocytic nevus	1	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional	30
HP:0003764	HP:0000995	Melanocytic nevus	1	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional
HP:0003764	HP:0000995	Melanocytic nevus	1	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0003764	HP:0001062	Atypical nevus	1	STK11 CL E G H	6794	11389	OMIM:155600	Melanoma, cutaneous malignant	.	740
HP:0003764	HP:0001074	Atypical nevi in non-sun exposed areas	1	STK11 CL E G H	6794	11389	OMIM:155600	Melanoma, cutaneous malignant	.	740
HP:0003764	HP:0001054	Numerous nevi	1	STK11 CL E G H	6794	11389	OMIM:155600	Melanoma, cutaneous malignant	.	740
HP:0003764	HP:0001052	Nevus flammeus	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003764	HP:0000995	Melanocytic nevus	1	SUFU CL E G H	51684	16466	ORPHA:377	Gorlin syndrome	HP:0040281 - Very frequent	124
HP:0003764	HP:0000995	Melanocytic nevus	1	SUZ12 CL E G H	23512	17101	OMIM:618786	IMAGAWA-MATSUMOTO SYNDROME; IMMAS		1
HP:0003764	HP:0100814	Blue nevus	1	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0003764	HP:0001052	Nevus flammeus	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003764	HP:0001052	Nevus flammeus	1	TEK CL E G H	7010	11724	ORPHA:98976	Congenital glaucoma	HP:0040281 - Very frequent	78
HP:0003764	HP:0001052	Nevus flammeus	1	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5		85
HP:0003764	HP:0000995	Melanocytic nevus	1	THPO CL E G H	7066	11795	ORPHA:3319	Congenital amegakaryocytic thrombocytopenia	HP:0040282 - Frequent	23
HP:0003764	HP:0001052	Nevus flammeus	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003764	HP:0000995	Melanocytic nevus	1	TNFRSF11A CL E G H	8792	11908	ORPHA:2801	Juvenile Paget disease	HP:0040283 - Occasional	72
HP:0003764	HP:0000995	Melanocytic nevus	1	TNFRSF11B CL E G H	4982	11909	ORPHA:2801	Juvenile Paget disease	HP:0040283 - Occasional	44
HP:0003764	HP:0000995	Melanocytic nevus	1	TP63 CL E G H	8626	15979	ORPHA:978	ADULT syndrome	HP:0040281 - Very frequent	140
HP:0003764	HP:0001052	Nevus flammeus	1	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism		78
HP:0003764	HP:0100898	Connective tissue nevi	1	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis		1090
HP:0003764	HP:0100898	Connective tissue nevi	1	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex		1090
HP:0003764	HP:0100898	Connective tissue nevi	1	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1		1090
HP:0003764	HP:0100898	Connective tissue nevi	1	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis		2738
HP:0003764	HP:0100898	Connective tissue nevi	1	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex		2738
HP:0003764	HP:0100898	Connective tissue nevi	1	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2		2738
HP:0003764	HP:0000995	Melanocytic nevus	1	TYR CL E G H	7299	12442	ORPHA:79434	Oculocutaneous albinism type 1B	HP:0040282 - Frequent	146
HP:0003764	HP:0100814	Blue nevus	1	TYRP1 CL E G H	7306	12450	ORPHA:79433	Oculocutaneous albinism type 3	HP:0040283 - Occasional	62
HP:0003764	HP:0000995	Melanocytic nevus	1	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	1
HP:0003764	HP:0001052	Nevus flammeus	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003764	HP:0001052	Nevus flammeus	1	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome		98
HP:0003764	HP:0001052	Nevus flammeus	1	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1	.	98
HP:0003764	HP:0000995	Melanocytic nevus	1	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional	34
HP:0003764	HP:0000995	Melanocytic nevus	1	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional	86
HP:0003764	HP:0034275	Verrucous epidermal nevus	2	CL E G H
HP:0003764	HP:0007616	Nevus flammeus nuchae	2	CL E G H
HP:0003764	HP:0005606	Hyperpigmented nevi and streak	2	CL E G H
HP:0003764	HP:0010733	Naevus flammeus of the eyelid	2	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome	HP:0040282 - Frequent	145
HP:0003764	HP:0007413	Nevus flammeus of the forehead	2	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome		7
HP:0003764	HP:0010815	Nevus sebaceous	2	BRAF CL E G H	673	1097	ORPHA:840	Syringocystadenoma papilliferum	HP:0040283 - Occasional	276
HP:0003764	HP:0007413	Nevus flammeus of the forehead	2	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome		2
HP:0003764	HP:0007413	Nevus flammeus of the forehead	2	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder		8
HP:0003764	HP:0010733	Naevus flammeus of the eyelid	2	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome	HP:0040283 - Occasional	164
HP:0003764	HP:0010733	Naevus flammeus of the eyelid	2	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	14
HP:0003764	HP:0010733	Naevus flammeus of the eyelid	2	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	5
HP:0003764	HP:0010733	Naevus flammeus of the eyelid	2	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional
HP:0003764	HP:0005600	Congenital giant melanocytic nevus	2	HRAS CL E G H	3265	5173	OMIM:137550	Melanocytic nevus syndrome, congenital	.	113
HP:0003764	HP:0010815	Nevus sebaceous	2	HRAS CL E G H	3265	5173	ORPHA:2874	Phakomatosis pigmentokeratotica		113
HP:0003764	HP:0010815	Nevus sebaceous	2	HRAS CL E G H	3265	5173	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.	113
HP:0003764	HP:0009721	Shagreen patch	2	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent	23
HP:0003764	HP:0009721	Shagreen patch	2	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2		23
HP:0003764	HP:0010815	Nevus sebaceous	2	KRAS CL E G H	3845	6407	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.	196
HP:0003764	HP:0007413	Nevus flammeus of the forehead	2	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK		70
HP:0003764	HP:0005600	Congenital giant melanocytic nevus	2	MC1R CL E G H	4157	6929	ORPHA:626	Large congenital melanocytic nevus	HP:0040281 - Very frequent	124
HP:0003764	HP:0007481	Hyperpigmented nevi	2	MC1R CL E G H	4157	6929	ORPHA:79432	Oculocutaneous albinism type 2	HP:0040284 - Very rare	124
HP:0003764	HP:0007413	Nevus flammeus of the forehead	2	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome	HP:0040281 - Very frequent	43
HP:0003764	HP:0020154	Nevus comedonicus	2	NEK9 CL E G H	91754	18591	OMIM:617025	NEVUS COMEDONICUS; NC		9
HP:0003764	HP:0005600	Congenital giant melanocytic nevus	2	NRAS CL E G H	4893	7989	ORPHA:626	Large congenital melanocytic nevus	HP:0040281 - Very frequent	102
HP:0003764	HP:0005600	Congenital giant melanocytic nevus	2	NRAS CL E G H	4893	7989	OMIM:137550	Melanocytic nevus syndrome, congenital	.	102
HP:0003764	HP:0005603	Numerous congenital melanocytic nevi	2	NRAS CL E G H	4893	7989	OMIM:249400	Neurocutaneous melanosis, somatic	.	102
HP:0003764	HP:0010815	Nevus sebaceous	2	NRAS CL E G H	4893	7989	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.	102
HP:0003764	HP:0007481	Hyperpigmented nevi	2	OCA2 CL E G H	4948	8101	ORPHA:79432	Oculocutaneous albinism type 2	HP:0040284 - Very rare	121
HP:0003764	HP:0007413	Nevus flammeus of the forehead	2	PLP1 CL E G H	5354	9086	ORPHA:280229	Pelizaeus-Merzbacher disease in female carriers	HP:0040283 - Occasional	60
HP:0003764	HP:0009721	Shagreen patch	2	PTEN CL E G H	5728	9588	ORPHA:2969	Proteus-like syndrome	HP:0040282 - Frequent	948
HP:0003764	HP:0010733	Naevus flammeus of the eyelid	2	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040283 - Occasional	19
HP:0003764	HP:0007481	Hyperpigmented nevi	2	RBM28 CL E G H	55131	21863	ORPHA:157954	ANE syndrome	HP:0040282 - Frequent	1
HP:0003764	HP:0007413	Nevus flammeus of the forehead	2	RBM8A CL E G H	9939	9905	ORPHA:3320	Thrombocytopenia-absent radius syndrome	HP:0040283 - Occasional	10
HP:0003764	HP:0007413	Nevus flammeus of the forehead	2	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0003764	HP:0009721	Shagreen patch	2	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type	HP:0040281 - Very frequent
HP:0003764	HP:0010815	Nevus sebaceous	2	SMO CL E G H	6608	11119	OMIM:601707	Curry-Jones syndrome		22
HP:0003764	HP:0009721	Shagreen patch	2	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis	HP:0040283 - Occasional	1090
HP:0003764	HP:0009721	Shagreen patch	2	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent	1090
HP:0003764	HP:0009721	Shagreen patch	2	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1	.	1090
HP:0003764	HP:0009721	Shagreen patch	2	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis	HP:0040283 - Occasional	2738
HP:0003764	HP:0009721	Shagreen patch	2	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent	2738
HP:0003764	HP:0009721	Shagreen patch	2	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2		2738
HP:0003764	HP:0010733	Naevus flammeus of the eyelid	2	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	98
HP:0003764	HP:0010817	Linear nevus sebaceous	3	HRAS CL E G H	3265	5173	ORPHA:2874	Phakomatosis pigmentokeratotica		113
HP:0003764	HP:0010817	Linear nevus sebaceous	3	HRAS CL E G H	3265	5173	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.	113
HP:0003764	HP:0010817	Linear nevus sebaceous	3	KRAS CL E G H	3845	6407	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.	196
HP:0003764	HP:0010817	Linear nevus sebaceous	3	NRAS CL E G H	4893	7989	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.	102