Nevus, Epidermal disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

KNEN MCID: NVS017 MIFTS: 66	Nevus, Epidermal (KNEN) Categories: Bone diseases, Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs Expand all tables

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Aliases & Classifications for Nevus, Epidermal

MalaCards integrated aliases for Nevus, Epidermal:

Name: Nevus, Epidermal ⁵⁸ ⁴¹ ⁷⁴

Epidermal Nevus ¹² ⁵⁴ ²⁶ ³⁰ ⁶ ¹⁵

Epidermal Nevus Syndrome ⁶⁰ ³⁰ ⁵⁶ ⁶

Epidermal Nevus, Somatic ⁵⁸ ¹³

Woolly Hair Nevus ⁶⁰ ⁷⁴

Nevus Sebaceous or Woolly Hair Nevus, Somatic ⁵⁸

Nevus, Keratinocytic, Nonepidermolytic ⁵⁸

Keratinocytic Non-Epidermolytic Nevus ⁷⁶

Nonepidermolytic Keratinocytic Nevus ¹²

Epidermal Hamartoma Syndrome ⁶⁰

Organoid Nevus Phakomatosis ⁷⁴

Nevus, Epidermal, Somatic ⁵⁸

Melanocytic Nevus of Skin ⁷⁴

Nevus, Woolly Hair ⁶

Melanocytic Nevus ⁷⁴

Epidermal Naevus ²⁶

Wooly Hair Nevus ⁶⁰

Pigmented Moles ⁷⁶

Nevus Sebaceous ⁷⁴

Knen ⁷⁶

Characteristics:

Orphanet epidemiological data:

⁶⁰

epidermal nevus syndrome
Inheritance: Not applicable; Age of onset: Infancy,Neonatal;

woolly hair nevus
Inheritance: Not applicable; Age of onset: Infancy,Neonatal;

OMIM:

⁵⁸

Inheritance:
somatic

HPO:

³³

nevus, epidermal:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Eye diseases Skin diseases Neuronal diseases Bone diseases

See all MalaCards categories (disease lists)

ICD10: ³⁵

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Phakomatoses, not elsewhere classified

Other phakomatoses, not elsewhere classified

Neoplasms

Benign neoplasms

Other benign neoplasms of skin

Benign neoplasm: Skin of scalp and neck

Orphanet: ⁶⁰

Rare eye diseases

Rare skin diseases

External Ids:

Disease Ontology ¹² DOID:0111162

OMIM ⁵⁸ 162900

MESH via Orphanet ⁴⁶ C536114 D054000

ICD10 via Orphanet ³⁵ D23.4 Q85.8

UMLS via Orphanet ⁷⁵ C0334082 C0343114

Orphanet ⁶⁰ ORPHA35125 ORPHA79414

MedGen ⁴³ C0334082 C3665593

SNOMED-CT via HPO ⁷⁰ 126962006 162294008 18655006 more

UMLS ⁷⁴ C0027962 C0265329 C0334082 more

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Summaries for Nevus, Epidermal

OMIM : ⁵⁸ Epidermal nevi are congenital lesions that affect about 1 in 1,000 people. They appear at or shortly after birth as localized epidermal thickening with hyperpigmentation that frequently follow the lines of Blaschko, suggesting that they result from postzygotic somatic mutation in the skin (Paller et al., 1994). A rare subgroup of epidermal nevi is clinically indistinguishable from other epidermal nevi, but displays histopathologic features typical of epidermolytic hyperkeratosis (see EHK, 113800), and patients with this type of epidermal nevi sometimes have offspring with generalized EHK (Paller et al., 1994). Woolly hair nevus is a rare condition characterized by the development of woolly hair in a restricted area on the scalp, either present at birth or becoming evident later in life when scalp hair begins to grow. Woolly hair nevus can be an isolated finding or can occur in association with additional ectodermal defects; epidermal nevi have been reported in association with woolly hair nevi (summary by Ramot and Zlotogorski, 2015). Nevus sebaceous, a benign congenital skin lesion that preferentially affects the scalp and face, is characterized by hairless, yellow-orange plaques of various size and shape. Histology shows that nevus sebaceous is a hamartoma consisting of epidermal, sebaceous, and apocrine elements. About 24% of nevi develop secondary tumors, some of which may be malignant (summary by Groesser et al., 2012). Also see giant pigmented hairy nevus (137550) and malignant melanoma (155600). (162900)

MalaCards based summary : Nevus, Epidermal, also known as epidermal nevus, is related to schimmelpenning-feuerstein-mims syndrome and epidermolytic nevus, and has symptoms including seizures An important gene associated with Nevus, Epidermal is HRAS (HRas Proto-Oncogene, GTPase), and among its related pathways/superpathways are Class I MHC mediated antigen processing and presentation and Developmental Biology. The drugs Mitogens and Antibodies have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and bone, and related phenotypes are nevus and pain

Disease Ontology : ¹² A skin disease characterized by localized epidermal thickening with hyperpigmentation that develops at or shortly after birth.

Genetics Home Reference : ²⁶ An epidermal nevus (plural: nevi) is an abnormal, noncancerous (benign) patch of skin caused by an overgrowth of cells in the outermost layer of skin (epidermis). Epidermal nevi are typically seen at birth or develop in early childhood. Affected individuals have one or more nevi that vary in size.

NIH Rare Diseases : ⁵⁴ An epidermal nevus is a noncancerous (benign) patch of skin caused by an overgrowth of skin cells. The nevi (plural form of nevus) are seen at birth or develop in early childhood. They can be flat, tan patches of skin, or raised, velvety patches and may become thicker and darker and develop a wart-like (verrucous) appearance. Often, epidermal nevi follow a pattern on the skin known as the �??lines of Blaschko�?�. Sometimes, people with an epidermal nevus may have problems in other body systems, such as the brain, eyes, or bones; these people are said to have an epidermal nevus syndrome, which is a group of different disorders. Mutations associated with an epidermal nevus are present only in the cells of the nevus, not in the normal skin cells surrounding it, and may involve the FGFR3, PIK3CA or, HRAS genes. Treatment is challenging and may include topical medication and surgery.

UniProtKB/Swiss-Prot : ⁷⁶ Keratinocytic non-epidermolytic nevus: Epidermal nevi of the common, non-organoid and non-epidermolytic type are benign skin lesions and may vary in their extent from a single (usually linear) lesion to widespread and systematized involvement. They may be present at birth or develop early during childhood.

Wikipedia : ⁷⁷ Epidermal nevus syndrome (also known as "Feuerstein and Mims syndrome", and "Solomon''s syndrome") is a... more...

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Related Diseases for Nevus, Epidermal

Diseases related to Nevus, Epidermal via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 211)

#	Related Disease	Score	Top Affiliating Genes
1	schimmelpenning-feuerstein-mims syndrome	32.6	HRAS KRAS NRAS
2	epidermolytic nevus	32.5	FGFR3 NRAS
3	melanocytic nevus syndrome, congenital	32.5	HRAS NRAS
4	keratosis, seborrheic	30.4	FGFR3 KRT10 PIK3CA
5	acanthoma	30.4	KRT1 KRT10
6	epidermolytic hyperkeratosis	30.1	KRT1 KRT10 KRT16
7	apocrine adenoma	30.1	HRAS KRAS PIK3CA
8	epidermolytic acanthoma	30.0	KRT1 KRT10
9	papilloma	30.0	FGFR3 KRT1 KRT10
10	keratosis	29.9	FGFR3 KRT1 KRT10 PIK3CA
11	myeloma, multiple	29.9	FGFR3 HRAS KRAS NRAS
12	bladder urothelial carcinoma	29.7	FGFR3 HRAS KRAS NRAS PIK3CA
13	white sponge nevus 1	29.6	KRT1 KRT10 KRT16
14	segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome	12.4
15	epidermal nevus vitamin d resistant rickets	12.3
16	becker nevus syndrome	12.2
17	papular epidermal nevi with skyline basal cell layers syndrome	11.9
18	nevus comedonicus	11.7
19	nevoid hypermelanosis, linear and whorled	11.5
20	klippel-trenaunay-weber syndrome	11.2
21	verruciform xanthoma of skin	11.2
22	mosaic trisomy 22	11.1
23	sigmoid neoplasm	10.4	HRAS KRAS
24	giant congenital nevus	10.4	HRAS NRAS
25	periampullary adenoma	10.4	HRAS KRAS
26	paronychia	10.4	HRAS KRAS
27	benign struma ovarii	10.4	HRAS NRAS
28	bile duct cysts	10.4	HRAS KRAS
29	rare adenocarcinoma of the breast	10.4	KRAS PIK3CA
30	ovarian melanoma	10.4	HRAS NRAS
31	prostate adenoid cystic carcinoma	10.4	HRAS PIK3CA
32	psoriasis	10.4
33	malignant conjunctival melanoma	10.4	HRAS NRAS
34	dermatosis papulosa nigra	10.4	FGFR3 PIK3CA
35	melanomatosis	10.4	HRAS NRAS
36	appendix disease	10.4	HRAS KRAS
37	marcus gunn phenomenon	10.4	HRAS NRAS
38	nasal cavity adenocarcinoma	10.4	HRAS KRAS
39	ethmoid sinus cancer	10.4	HRAS PIK3CA
40	ethmoid sinus adenocarcinoma	10.4	HRAS PIK3CA
41	rickets	10.3
42	malignant struma ovarii	10.3	HRAS NRAS
43	secondary hypertrophic osteoarthropathy	10.3	HRAS KRAS
44	nodular malignant melanoma	10.3	HRAS NRAS
45	anal canal adenocarcinoma	10.3	HRAS KRAS
46	fetal adenoma	10.3	HRAS NRAS
47	core binding factor acute myeloid leukemia	10.3	HRAS KRAS NRAS
48	liver angiosarcoma	10.3	HRAS KRAS NRAS
49	myelodysplastic myeloproliferative cancer	10.3	HRAS NRAS
50	erdheim-chester disease	10.3	NRAS PIK3CA

Graphical network of the top 20 diseases related to Nevus, Epidermal:

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Symptoms & Phenotypes for Nevus, Epidermal

Human phenotypes related to Nevus, Epidermal:

⁶⁰ ³³ (show all 29)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	nevus ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0003764
2	pain ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0012531
3	spinal canal stenosis ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0003416
4	progressive spastic paraparesis ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0007199
5	hyperpigmentation of the skin ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000953
6	hypopigmentation of the skin ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0001010
7	atrophy of the spinal cord ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0006827
8	spinal cord compression ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0002176
9	global developmental delay ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0001263
10	delayed speech and language development ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0000750
11	visual impairment ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0000505
12	babinski sign ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0003487
13	areflexia ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0001284
14	lipoma ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0012032
15	astigmatism ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0000483
16	spinal cord tumor ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0010302
17	abnormality of brain morphology ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0012443
18	thoracolumbar scoliosis ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0002944
19	weakness of long finger extensor muscles ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0009077
20	osteopenia ⁶⁰ ³³	very rare (1%)	Very rare (<4-1%)	HP:0000938
21	abnormal facial shape ⁶⁰ ³³	very rare (1%)	Very rare (<4-1%)	HP:0001999
22	polycystic kidney dysplasia ⁶⁰ ³³	very rare (1%)	Very rare (<4-1%)	HP:0000113
23	vitamin d deficiency ⁶⁰ ³³	very rare (1%)	Very rare (<4-1%)	HP:0100512
24	rhabdomyosarcoma ⁶⁰ ³³	very rare (1%)	Very rare (<4-1%)	HP:0002859
25	aortic aneurysm ³³	very rare (1%)		HP:0004942
26	hypertonia ⁶⁰		Occasional (29-5%)
27	melanocytic nevus ³³			HP:0000995
28	aortic dilatation ⁶⁰		Very rare (<4-1%)
29	numerous nevi ³³			HP:0001054

Symptoms via clinical synopsis from OMIM:

⁵⁸

Skin Nails Hair Skin:
multiple nevi
pigmented moles
woolly hair nevus (in some patients)
hyperpigmented patches of skin (in some patients)
raised, scaly, and/or hyperkeratotic areas of skin (in some patients)

Skin Nails Hair Hair:
patches of tightly curled scalp hair adjacent to straight hair (in some patients)

Clinical features from OMIM:

162900

UMLS symptoms related to Nevus, Epidermal:

seizures

GenomeRNAi Phenotypes related to Nevus, Epidermal according to GeneCards Suite gene sharing:

²⁷

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased viability	GR00055-A-2	9.94	HRAS KRAS PIK3CA
2	Decreased viability	GR00106-A-0	9.94	KRAS
3	Decreased viability	GR00221-A-1	9.94	HRAS KRAS PIK3CA FGFR3 NRAS
4	Decreased viability	GR00221-A-2	9.94	HRAS KRAS PIK3CA FGFR3
5	Decreased viability	GR00221-A-3	9.94	HRAS FGFR3 NRAS
6	Decreased viability	GR00221-A-4	9.94	PIK3CA
7	Decreased viability	GR00301-A	9.94	KRAS
8	Decreased viability	GR00381-A-1	9.94	KRAS
9	Decreased viability	GR00402-S-2	9.94	HRAS KRAS PIK3CA FGFR3 NRAS
10	Decreased cell migration	GR00055-A-1	9.26	FGFR3 HRAS KRAS PIK3CA

MGI Mouse Phenotypes related to Nevus, Epidermal:

⁴⁷

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cardiovascular system	MP:0005385	10.09	FGF23 HRAS KRAS KRT1 LEMD3 MMP12
2	growth/size/body region	MP:0005378	10.07	DSE FGF23 FGFR3 HRAS KRAS KRT1
3	homeostasis/metabolism	MP:0005376	10.02	FGF23 FGFR3 HRAS KRAS KRT1 KRT16
4	integument	MP:0010771	10	DSE FGF23 FGFR3 HRAS KRAS KRT1
5	digestive/alimentary	MP:0005381	9.88	FGF23 FGFR3 HRAS KRAS KRT16 NRAS
6	mortality/aging	MP:0010768	9.7	FGF23 FGFR3 HRAS KRAS KRT1 KRT16
7	limbs/digits/tail	MP:0005371	9.63	DSE FGF23 FGFR3 KRAS NRAS NSDHL
8	skeleton	MP:0005390	9.17	FGF23 FGFR3 HRAS KRAS NRAS NSDHL

Sources

Drugs & Therapeutics for Nevus, Epidermal

Drugs for Nevus, Epidermal (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 12)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Mitogens

Phase 3

Antibodies

Phase 3,Phase 2

Immunologic Factors

Phase 3

Antibodies, Monoclonal

Phase 3

Immunoglobulins

Phase 3,Phase 2

Pharmaceutical Solutions

Phase 2

Angiotensin II

Approved, Investigational

11128-99-7, 68521-88-0, 4474-91-3

172198

Synonyms:

1-8-Angiotensin I

1-L-Aspasaginyl-5-L-valyl angiotensin octapeptide

5 L Isoleucine angiotensin II

5-isoleucine-angiotensin II

5-Isoleucine-angiotensin II

5-L-Isoleucine angiotensin II

5-L-isoleucineangiotensin II

5-L-Isoleucineangiotensin II

Ang II

ANG-(1-8)octapeptide

Angiotensin

Angiotensin 2

Angiotensin II

Angiotensin II (human)

Angiotensin II (mouse)

Angiotensin II, 5-L-isoleucine

Angiotensin-(1-8) octapeptide

Angiotonin

Asp-arg-val-tyr-ile-his-pro-phe

Human angiotensin II

Hypertensin

II, 5-L-isoleucine angiotensin

Ile(5)-angiotensin II

Ile5-angiotensin II

Isoleucine(5)-angiotensin

Isoleucine(5)-angiotensin II

isoleucine5-angiotensin II

Isoleucyl(5)-angiotensin II

N-(1-(N-(N-(N-(N-(N(2)-L-a-Aspartyl-L-arginyl)-L-valyl)-L-tyrosyl)-L-isoleucyl)-L-histidyl)-L-prolyl)-L-phenylalanine

N-(1-(N-(N-(N-(N-(N(2)-L-alpha-Aspartyl-L-arginyl)-L-valyl)-L-tyrosyl)-L-isoleucyl)-L-histidyl)-L-prolyl)-L-phenylalanine

N-(1-(N-(N-(N-(N-(N(2)-L-α-aspartyl-L-arginyl)-L-valyl)-L-tyrosyl)-L-isoleucyl)-L-histidyl)-L-prolyl)-L-phenylalanine

Valyl(5)-angiotensin II

Vasodilator Agents

Antihypertensive Agents

Angiotensinogen

Angiotensin I (1-7)

Endothelial Growth Factors

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Open Label Trial Assessing Safety and Efficacy of Burosumab (KRN23), in a Patient With ENS and Hypophosphatemic Rickets	Active, not recruiting	NCT03581591	Phase 3
2	A Study of KRN23 in Subjects With Tumor-Induced Osteomalacia or Epidermal Nevus Syndrome	Active, not recruiting	NCT02722798	Phase 2	KRN23
3	Study of KRN23 in Adult Subjects With Tumor-Induced Osteomalacia (TIO) or Epidermal Nevus Syndrome (ENS)	Active, not recruiting	NCT02304367	Phase 2
4	National Registry for Ichthyosis and Related Disorders	Unknown status	NCT00074685
5	FGF23 and Angiotensin-(1-7) in Hypophosphatemia (GAP)	Recruiting	NCT03489993
6	Identification of Biomarkers for Patients With Vascular Anomalies	Recruiting	NCT03001180

Search NIH Clinical Center for Nevus, Epidermal

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Genetic Tests for Nevus, Epidermal

Genetic tests related to Nevus, Epidermal:

#	Genetic test	Affiliating Genes
1	Epidermal Nevus Syndrome ³⁰	HRAS KRAS NRAS
2	Epidermal Nevus ³⁰	FGFR3 HRAS NRAS PIK3CA

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Anatomical Context for Nevus, Epidermal

MalaCards organs/tissues related to Nevus, Epidermal:

⁴²

Skin, Eye, Bone, Brain, Spinal Cord, Kidney, Thyroid

Sources

Publications for Nevus, Epidermal

Articles related to Nevus, Epidermal:

(show top 50) (show all 441)

#	Title	Authors	Year
1	Topical sirolimus therapy for epidermal nevus with features of acanthosis nigricans. ( 30983034 )	Dodds M...Maguiness S	2019
2	Successful treatment of inflammatory linear verrucous epidermal nevus (ILVEN) with 308-nm excimer laser: patient patient required. ( 30648292 )	Wang RF...Kaffenberger BH	2019
3	Inflammatory linear verrucous epidermal nevus treated successfully with crisaborole ointment in a 5-year-old boy. ( 30838675 )	Barney E...Ramirez M	2019
4	A case of cutaneous horn arising in verrucous epidermal nevus. ( 29536972 )	Bains A...Nalwa A	2019
5	A Somatic p.Phe29del Mutation of Connexin 26 (GJB2) Manifesting as Acantholytic Dyskeratotic Epidermal Nevus. ( 30916736 )	Lee YI...Lee MG	2019
6	Successful Treatment of Inflammatory Linear Verrucous Epidermal Nevus with Concomitant Psoriasis Using Etanercept. ( 29606943 )	Saifaldeen RH...Khan AS	2018
7	Reconstruction of a buttock defect after excision of inflammatory linear verrucous epidermal nevus. ( 29624795 )	Zhang Q...Fang F	2018
8	Inflammatory linear verrucous epidermal nevus associated with erosive monoarthritis. ( 29974513 )	Bertolin-Colilla M...Pujol RM	2018
9	Widely Spread Unilateral Inflammatory Linear Verrucous Epidermal Nevus (ILVEN). ( 30022937 )	Tanita K...Aiba S	2018
10	Treatment of inflammatory linear verrucous epidermal nevus pruritus with thalidomide. ( 30091521 )	Ossorio-Garc?a L...Linares-Barrios M	2018
11	Inflammatory linear verrucous epidermal nevus responsive to 308-nm excimer laser treatment. ( 30235359 )	Grgurich E...Purcell SM	2018
12	Verruciform xanthoma overlying inflammatory linear verrucous epidermal nevus and in broad segmental distribution. ( 30337284 )	Singh S...Agarwal S	2018
13	Segmental epidermal nevus and mucosal neuromas associated with PIK3CA-related overgrowth spectrum disorder. ( 30511004 )	Roth GM...Wanat KA	2018
14	Successful Treatment of Epidermal Nevus-associated Pruritus with Topical Ketamine-Amitriptyline-Lidocaine. ( 28972247 )	Jaller JA...Yosipovitch G	2018
15	Epidermal nevus syndromes: New insights into whorls and swirls. ( 29044700 )	Asch S...Sugarman JL	2018
16	Familial papular epidermal nevus with "skyline" basal cell layer and multiple pilomatricomas: A new association? ( 29488242 )	Rizzoli L...Girardelli CR	2018
17	Familial papular epidermal nevus with "skyline" basal cell layer. ( 29575181 )	Beteta-Gorriti V...Ca?ueto J	2018
18	Successful treatment of verrucous epidermal nevus with fractional micro-plasma radio-frequency technology and photodynamic therapy. ( 30130422 )	Zheng X...Zeng K	2018
19	Appearance of Verruca Over Linear Verrucous Epidermal Nevus - An Example of Locus Minoris Resistentiae: A Report of Three Cases. ( 30258804 )	Ranugha PSS...Basavaraj V	2018
20	A Case of Cap Polyposis with Epidermal Nevus in an Infant. ( 28378565 )	Kim SC...Hwang PH	2017
21	Dermoscopy of linear dermatosis along Blaschko's line in childhood: Lichen striatus versus inflammatory linear verrucous epidermal nevus. ( 28925078 )	Kim DW...Park J	2017
22	Is Ki-67, keratin 16, involucrin, and filaggrin immunostaining sufficient to diagnose inflammatory linear verrucous epidermal nevus? A report of eight cases and a comparison with psoriasis vulgaris. ( 29166506 )	Peng J...Fan YM	2017
23	Inflammatory linear verrucous epidermal nevus: an unusual manifestation. ( 26426377 )	Bassi A...Syed S	2017
24	Inflammatory Linear Verrucous Epidermal Nevus with a Postzygotic GJA1 Mutation Is a Mosaic Erythrokeratodermia Variabilis et Progressiva. ( 27890787 )	Umegaki-Arao N...Kubo A	2017
25	A Case of "Inflammatory Linear Verrucous Epidermal Nevus" (ILVEN) Treated with CO2 Laser Ablation. ( 28785331 )	Gianfaldoni S...Lotti T	2017
26	Seborrheic keratosis arising on an epidermal nevus with HRAS p.G13R mutation. ( 28247919 )	Kitamura S...Shimizu H	2017
27	Nevoid Psoriasis Coexisting with Verrucous Epidermal Nevus. ( 28405565 )	Masatkar V...Mittal A	2017
28	Er:YAG laser treatment of epidermal nevus syndrome. ( 27644122 )	Lee JH...Im M	2017
29	Massive Vulvar Linear Verrucous Epidermal Nevus Presenting at Menarche. ( 28093318 )	Morrison JE...Bonham A	2017
30	Dermoscopy of Papular Epidermal Nevus with Skyline Basal Cell Layer. ( 28111793 )	Balestri R...Girardelli CR	2017
31	Papular Epidermal Nevus with "Skyline" Basal Cell Layer Syndrome - Natural Course: Case Report and Literature Review. ( 28203156 )	Zahn CA...Itin P	2017
32	Papillary transitional cell bladder carcinoma and systematized epidermal nevus syndrome. ( 28207006 )	Akingboye A...Taylor GA	2017
33	Widespread epidermal nevus with a postzygotic FGFR3 mutation. ( 28664990 )	Doi H...Ishida-Yamamoto A	2017
34	Giant Cutaneous Horn Arising in an Epidermal Nevus. ( 28783212 )	Cardis MA...Kirkorian AY	2017
35	Spatial co-occurrence of hemangioma and epidermal nevus. ( 26566756 )	Errichetti E...Piccirillo A	2016
36	Two cases of agminated keratinocytic epidermal nevus resembling segmentally arranged seborrheic keratosis. ( 27154009 )	Akasaka K...Akasaka T	2016
37	Epidermal Nevus Presenting in a Pediatric Patient With Pallister-Killian Syndrome. ( 27502266 )	Nelson G...Shenefelt P	2016
38	Dermoscopy of verrucous epidermal nevus: large brown circles as a novel feature for diagnosis. ( 26475079 )	Carbotti M...Panasiti V	2016
39	Novel postzygotic KRAS mutation in a Japanese case of epidermal nevus syndrome presenting with two distinct clinical features, keratinocytic epidermal nevi and sebaceous nevi. ( 26498739 )	Igawa S...Ishida-Yamamoto A	2016
40	Papular Epidermal Nevus with Skyline Basal Cell Layer (PENS): Three New Cases and Review of the Literature. ( 26939784 )	Luna PC...Larralde M	2016
41	Linear Epidermal Nevus: A Case Report With Oral and Facial Manifestations. ( 27160364 )	Maly C...Cole H	2016
42	Cutaneous and brain malformations of epidermal nevus syndrome: A classical image. ( 27857810 )	Israni A...Gulati S	2016
43	Multiple basal cell carcinomas arising in an epidermal nevus. ( 27879078 )	Messerschmidt A...Meissner M	2016
44	First Reported Case of 'Epidermal Nevus Syndrome' with a Triad of Central Nervous System Deformities. ( 28083460 )	Ullah W...Khan S	2016
45	Squamous cell carcinoma arising in a multiple verrucous epidermal nevus. ( 28300931 )	Yarak S...Porro AM	2016
46	Basal cell carcinoma arising on a verrucous epidermal nevus: a case report. ( 25848348 )	Viana A...Ramos-E-Silva M	2015
47	Multifocal basal cell carcinoma arising within a linear epidermal nevus. ( 25657916 )	Mordovtseva VV	2015
48	A Case of Inflammatory Linear Verrucous Epidermal Nevus on the Upper Eyelid. ( 26120188 )	Nakai N...Katoh N	2015
49	Genital/Perigenital Inflammatory Linear Verrucous Epidermal Nevus: A Case Series. ( 26677274 )	Bandyopadhyay D...Saha A	2015
50	Inflammatory linear verrucous epidermal nevus and regional odontodysplasia: A rare sorority. ( 26752881 )	Prakash SM...Goel S	2015

Sources

Genes for Nevus, Epidermal

Genes related to Nevus, Epidermal (5 elite genes):

(show all 14)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	HRAS	HRas Proto-Oncogene, GTPase	Protein Coding	1464.93	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative somatic mutation ⁶⁰ Genetic Tests ³⁰ DISEASES inferred ¹⁵	22683711 24129065 22499344 (more) 23884457 24390138 12835555 24006476 18039947 18642361 2999610 7177195 16170316 3537694 6092966 6330729 17412879 8960317 16443854 17054105 11150980 22087699
2	NRAS	NRAS Proto-Oncogene, GTPase	Protein Coding	1400	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative variation ⁷⁶ Genetic Tests ³⁰	12727991 22499344 18633438 (more) 23392294 24006476 24284627 17332249
3	FGFR3	Fibroblast Growth Factor Receptor 3	Protein Coding	1317.18	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative variation ⁷⁶ Genetic Tests ³⁰ DISEASES inferred ¹⁵	7773297 8858131 9677066 (more) 10073901 11529856 12833394 15772091 16841094 18642369 7649548 7913883 8078586 8673103 11030304 15517832 11186939 11186940 16766665 18266238 20624921 21324899 8845844
4	PIK3CA	Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha	Protein Coding	1015.56	Molecular basis known ⁵⁸ Pathogenic/Likely pathogenic ⁶ Genetic Tests ³⁰ DISEASES inferred ¹⁵	15520168 17673550
5	KRAS	KRAS Proto-Oncogene, GTPase	Protein Coding	521.19	Pathogenic ⁶ Genetic Tests ³⁰ DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)	8439212 7773929 20805368 (more) 22683711 20949522 22499344 17332249 21079152
6	FGF23	Fibroblast Growth Factor 23	Protein Coding	22.15	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶	15742370
7	NSDHL	NAD(P) Dependent Steroid Dehydrogenase-Like	Protein Coding	16.43	DISEASES inferred ¹⁵
8	KRT10	Keratin 10	Protein Coding	15.96	DISEASES inferred ¹⁵
9	PIGL	Phosphatidylinositol Glycan Anchor Biosynthesis Class L	Protein Coding	15.34	DISEASES inferred ¹⁵
10	KRT16	Keratin 16	Protein Coding	15.22	DISEASES inferred ¹⁵
11	KRT1	Keratin 1	Protein Coding	15.05	DISEASES inferred ¹⁵
12	MMP12	Matrix Metallopeptidase 12	Protein Coding	14.93	DISEASES inferred ¹⁵
13	LEMD3	LEM Domain Containing 3	Protein Coding	14.83	DISEASES inferred ¹⁵
14	DSE	Dermatan Sulfate Epimerase	Protein Coding	14.24	DISEASES inferred ¹⁵

Sources

Variations for Nevus, Epidermal

UniProtKB/Swiss-Prot genetic disease variations for Nevus, Epidermal:

⁷⁶

#	Symbol	AA change	Variation ID	SNP ID
1	FGFR3	p.Arg248Cys	VAR_004148	rs121913482
2	FGFR3	p.Gly370Cys	VAR_004151	rs121913479
3	FGFR3	p.Gly380Arg	VAR_004155	rs28931614
4	NRAS	p.Gln61Arg	VAR_006847	rs11554290
5	NRAS	p.Gly12Asp	VAR_071129	rs121913237
6	NRAS	p.Pro34Leu	VAR_071130	rs397514553

ClinVar genetic disease variations for Nevus, Epidermal:

⁶ (show top 50) (show all 62)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	KRAS	NM_004985.4(KRAS): c.35G> A (p.Gly12Asp)	single nucleotide variant	Pathogenic	rs121913529	GRCh37	Chromosome 12, 25398284: 25398284
2	KRAS	NM_004985.4(KRAS): c.35G> A (p.Gly12Asp)	single nucleotide variant	Pathogenic	rs121913529	GRCh38	Chromosome 12, 25245350: 25245350
3	KRAS	NM_004985.4(KRAS): c.35G> T (p.Gly12Val)	single nucleotide variant	Pathogenic	rs121913529	GRCh37	Chromosome 12, 25398284: 25398284
4	KRAS	NM_004985.4(KRAS): c.35G> T (p.Gly12Val)	single nucleotide variant	Pathogenic	rs121913529	GRCh38	Chromosome 12, 25245350: 25245350
5	KRAS	NM_004985.4(KRAS): c.458A> T (p.Asp153Val)	single nucleotide variant	Pathogenic	rs104894360	GRCh37	Chromosome 12, 25362838: 25362838
6	KRAS	NM_004985.4(KRAS): c.458A> T (p.Asp153Val)	single nucleotide variant	Pathogenic	rs104894360	GRCh38	Chromosome 12, 25209904: 25209904
7	HRAS	NM_005343.2(HRAS): c.35G> T (p.Gly12Val)	single nucleotide variant	Pathogenic	rs104894230	GRCh37	Chromosome 11, 534288: 534288
8	HRAS	NM_005343.2(HRAS): c.35G> T (p.Gly12Val)	single nucleotide variant	Pathogenic	rs104894230	GRCh38	Chromosome 11, 534288: 534288
9	HRAS	NM_176795.4(HRAS): c.34G> A (p.Gly12Ser)	single nucleotide variant	Pathogenic	rs104894229	GRCh37	Chromosome 11, 534289: 534289
10	HRAS	NM_176795.4(HRAS): c.34G> A (p.Gly12Ser)	single nucleotide variant	Pathogenic	rs104894229	GRCh38	Chromosome 11, 534289: 534289
11	HRAS	NM_005343.2(HRAS): c.35G> A (p.Gly12Asp)	single nucleotide variant	Pathogenic	rs104894230	GRCh37	Chromosome 11, 534288: 534288
12	HRAS	NM_005343.2(HRAS): c.35G> A (p.Gly12Asp)	single nucleotide variant	Pathogenic	rs104894230	GRCh38	Chromosome 11, 534288: 534288
13	HRAS	NM_005343.2(HRAS): c.35G> C (p.Gly12Ala)	single nucleotide variant	Pathogenic	rs104894230	GRCh37	Chromosome 11, 534288: 534288
14	HRAS	NM_005343.2(HRAS): c.35G> C (p.Gly12Ala)	single nucleotide variant	Pathogenic	rs104894230	GRCh38	Chromosome 11, 534288: 534288
15	HRAS	NM_005343.4(HRAS): c.37G> T (p.Gly13Cys)	single nucleotide variant	Pathogenic	rs104894228	GRCh37	Chromosome 11, 534286: 534286
16	HRAS	NM_005343.4(HRAS): c.37G> T (p.Gly13Cys)	single nucleotide variant	Pathogenic	rs104894228	GRCh38	Chromosome 11, 534286: 534286
17	HRAS	NM_005343.2(HRAS): c.34G> T (p.Gly12Cys)	single nucleotide variant	Pathogenic	rs104894229	GRCh37	Chromosome 11, 534289: 534289
18	HRAS	NM_005343.2(HRAS): c.34G> T (p.Gly12Cys)	single nucleotide variant	Pathogenic	rs104894229	GRCh38	Chromosome 11, 534289: 534289
19	PIK3CA	NM_006218.3(PIK3CA): c.1634A> G (p.Glu545Gly)	single nucleotide variant	Pathogenic/Likely pathogenic	rs121913274	GRCh37	Chromosome 3, 178936092: 178936092
20	PIK3CA	NM_006218.3(PIK3CA): c.1634A> G (p.Glu545Gly)	single nucleotide variant	Pathogenic/Likely pathogenic	rs121913274	GRCh38	Chromosome 3, 179218304: 179218304
21	NRAS	NM_002524.3(NRAS): c.182A> G (p.Gln61Arg)	single nucleotide variant	Pathogenic	rs11554290	GRCh37	Chromosome 1, 115256529: 115256529
22	NRAS	NM_002524.3(NRAS): c.182A> G (p.Gln61Arg)	single nucleotide variant	Pathogenic	rs11554290	GRCh38	Chromosome 1, 114713908: 114713908
23	FGFR3	NM_000142.4(FGFR3): c.1138G> A (p.Gly380Arg)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs28931614	GRCh37	Chromosome 4, 1806119: 1806119
24	FGFR3	NM_000142.4(FGFR3): c.1138G> A (p.Gly380Arg)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs28931614	GRCh38	Chromosome 4, 1804392: 1804392
25	FGFR3	NM_000142.4(FGFR3): c.742C> T (p.Arg248Cys)	single nucleotide variant	Pathogenic	rs121913482	GRCh37	Chromosome 4, 1803564: 1803564
26	FGFR3	NM_000142.4(FGFR3): c.742C> T (p.Arg248Cys)	single nucleotide variant	Pathogenic	rs121913482	GRCh38	Chromosome 4, 1801837: 1801837
27	FGFR3	NM_001163213.1(FGFR3): c.1626C> G (p.Asn542Lys)	single nucleotide variant	Pathogenic	rs28933068	GRCh37	Chromosome 4, 1807371: 1807371
28	FGFR3	NM_001163213.1(FGFR3): c.1626C> G (p.Asn542Lys)	single nucleotide variant	Pathogenic	rs28933068	GRCh38	Chromosome 4, 1805644: 1805644
29	FGFR3	NM_000142.4(FGFR3): c.746C> G (p.Ser249Cys)	single nucleotide variant	Pathogenic	rs121913483	GRCh37	Chromosome 4, 1803568: 1803568
30	FGFR3	NM_000142.4(FGFR3): c.746C> G (p.Ser249Cys)	single nucleotide variant	Pathogenic	rs121913483	GRCh38	Chromosome 4, 1801841: 1801841
31	FGFR3	NM_000142.4(FGFR3): c.749C> G (p.Pro250Arg)	single nucleotide variant	Pathogenic	rs4647924	GRCh37	Chromosome 4, 1803571: 1803571
32	FGFR3	NM_000142.4(FGFR3): c.749C> G (p.Pro250Arg)	single nucleotide variant	Pathogenic	rs4647924	GRCh38	Chromosome 4, 1801844: 1801844
33	FGFR3	NM_000142.4(FGFR3): c.1108G> T (p.Gly370Cys)	single nucleotide variant	Pathogenic	rs121913479	GRCh37	Chromosome 4, 1806089: 1806089
34	FGFR3	NM_000142.4(FGFR3): c.1108G> T (p.Gly370Cys)	single nucleotide variant	Pathogenic	rs121913479	GRCh38	Chromosome 4, 1804362: 1804362
35	HRAS	NM_005343.3(HRAS): c.37G> C (p.Gly13Arg)	single nucleotide variant	Pathogenic/Likely pathogenic	rs104894228	GRCh37	Chromosome 11, 534286: 534286
36	HRAS	NM_005343.3(HRAS): c.37G> C (p.Gly13Arg)	single nucleotide variant	Pathogenic/Likely pathogenic	rs104894228	GRCh38	Chromosome 11, 534286: 534286
37	NRAS	NM_002524.4(NRAS): c.101C> T (p.Pro34Leu)	single nucleotide variant	Pathogenic	rs397514553	GRCh37	Chromosome 1, 115258681: 115258681
38	NRAS	NM_002524.4(NRAS): c.101C> T (p.Pro34Leu)	single nucleotide variant	Pathogenic	rs397514553	GRCh38	Chromosome 1, 114716060: 114716060
39	NRAS	NM_002524.3(NRAS): c.35G> A (p.Gly12Asp)	single nucleotide variant	Pathogenic	rs121913237	GRCh37	Chromosome 1, 115258747: 115258747
40	NRAS	NM_002524.3(NRAS): c.35G> A (p.Gly12Asp)	single nucleotide variant	Pathogenic	rs121913237	GRCh38	Chromosome 1, 114716126: 114716126
41	PIK3CA	NM_006218.3(PIK3CA): c.3139C> T (p.His1047Tyr)	single nucleotide variant	Pathogenic	rs121913281	GRCh37	Chromosome 3, 178952084: 178952084
42	PIK3CA	NM_006218.3(PIK3CA): c.3139C> T (p.His1047Tyr)	single nucleotide variant	Pathogenic	rs121913281	GRCh38	Chromosome 3, 179234296: 179234296
43	HRAS	NM_005343.4(HRAS): c.520C> T (p.Pro174Ser)	single nucleotide variant	Benign	rs397517144	GRCh37	Chromosome 11, 532686: 532686
44	HRAS	NM_005343.4(HRAS): c.520C> T (p.Pro174Ser)	single nucleotide variant	Benign	rs397517144	GRCh38	Chromosome 11, 532686: 532686
45	FGFR3	NM_000142.4(FGFR3): c.1949A> C (p.Lys650Thr)	single nucleotide variant	Pathogenic	rs121913105	GRCh37	Chromosome 4, 1807890: 1807890
46	FGFR3	NM_000142.4(FGFR3): c.1949A> C (p.Lys650Thr)	single nucleotide variant	Pathogenic	rs121913105	GRCh38	Chromosome 4, 1806163: 1806163
47	HRAS	NM_176795.4(HRAS): c.182A> G (p.Gln61Arg)	single nucleotide variant	Likely pathogenic	rs121913233	GRCh38	Chromosome 11, 533874: 533874
48	HRAS	NM_176795.4(HRAS): c.182A> G (p.Gln61Arg)	single nucleotide variant	Likely pathogenic	rs121913233	GRCh37	Chromosome 11, 533874: 533874
49	COL7A1	NM_000094.3(COL7A1): c.1442G> A (p.Arg481His)	single nucleotide variant	Likely pathogenic	rs147040026	GRCh38	Chromosome 3, 48591738: 48591738
50	COL7A1	NM_000094.3(COL7A1): c.1442G> A (p.Arg481His)	single nucleotide variant	Likely pathogenic	rs147040026	GRCh37	Chromosome 3, 48629171: 48629171

Sources

Expression for Nevus, Epidermal

Search GEO for disease gene expression data for Nevus, Epidermal.

Sources

Pathways for Nevus, Epidermal

Pathways related to Nevus, Epidermal according to GeneCards Suite gene sharing:

(show top 50) (show all 104)

#	Super pathways	Score	Top Affiliating Genes
1	Class I MHC mediated antigen processing and presentation ⁶⁷ Show member pathways Adaptive Immune System ⁶⁷ Antigen processing- Ubiquitination and Proteasome degradation ⁶⁷	13.44	FGF23 FGFR3 HRAS KRAS NRAS PIK3CA
2	Developmental Biology ⁶⁷ Show member pathways Axon guidance ⁶⁷	13.36	FGF23 FGFR3 HRAS KRAS KRT1 KRT10
3	Cytokine Signaling in Immune system ⁶⁷ Show member pathways Signaling by Interleukins ⁶⁷	13.35	FGF23 FGFR3 HRAS KRAS NRAS PIK3CA
4	Phospholipase-C Pathway ⁶⁵ Show member pathways PTEN Pathway ⁶⁵	13.06	FGF23 FGFR3 HRAS KRAS NRAS
5	p70S6K Signaling ⁶⁵ Show member pathways mTOR Pathway ⁶⁵ Renin-Angiotensin Pathway ⁶⁵	13.05	FGF23 FGFR3 HRAS KRAS NRAS
6	Circadian entrainment ³⁸ Show member pathways Cholinergic synapse ³⁸ Dopaminergic synapse ³⁸ Estrogen signaling pathway ³⁸ Glutamatergic synapse ³⁸ Relaxin receptors ⁶⁷ Relaxin signaling pathway ³⁸ Synaptic Neurotransmission Pathways: Glutamatergic Excitation ⁶⁶	13.05	HRAS KRAS KRT10 KRT16 NRAS PIK3CA
7	PI3K-Akt signaling pathway ³⁸ Show member pathways Human papillomavirus infection ³⁸	13.01	FGF23 FGFR3 HRAS KRAS NRAS PIK3CA
8	NFAT and Cardiac Hypertrophy ⁶⁵ Show member pathways IGF1R Signaling ⁶⁵ Signaling Involved in Cardiac Hypertrophy ⁶⁵	12.88	FGFR3 HRAS KRAS NRAS PIK3CA
9	Downstream signaling of activated FGFR2 ⁶⁷ Show member pathways Activated point mutants of FGFR2 ⁶⁷ betaKlotho-mediated ligand binding ⁶⁷ Downstream signaling of activated FGFR1 ⁶⁷ Downstream signaling of activated FGFR3 ⁶⁷ Downstream signaling of activated FGFR4 ⁶⁷ FGFR1b ligand binding and activation ⁶⁷ FGFR1c and Klotho ligand binding and activation ⁶⁷ FGFR2c ligand binding and activation ⁶⁷ FGFR4 ligand binding and activation ⁶⁷ FGFR4 mutant receptor activation ⁶⁷ FRS-mediated FGFR1 signaling ⁶⁷ FRS-mediated FGFR2 signaling ⁶⁷ FRS-mediated FGFR3 signaling ⁶⁷ FRS-mediated FGFR4 signaling ⁶⁷ Phospholipase C-mediated cascade- FGFR1 ⁶⁷ Phospholipase C-mediated cascade; FGFR2 ⁶⁷ Phospholipase C-mediated cascade; FGFR3 ⁶⁷ Phospholipase C-mediated cascade; FGFR4 ⁶⁷ PI-3K cascade-FGFR1 ⁶⁷ PI-3K cascade-FGFR2 ⁶⁷ PI-3K cascade-FGFR3 ⁶⁷ PI-3K cascade-FGFR4 ⁶⁷ SHC-mediated cascade-FGFR1 ⁶⁷ SHC-mediated cascade-FGFR2 ⁶⁷ SHC-mediated cascade-FGFR3 ⁶⁷ SHC-mediated cascade-FGFR4 ⁶⁷ Signaling by FGFR1 amplification mutants ⁶⁷ Signaling by FGFR3 fusions in cancer ⁶⁷ Signaling by FGFR3 in disease ⁶⁷ Signaling by FGFR3 point mutants in cancer ⁶⁷ Signaling by FGFR4 in disease ⁶⁷	12.85	FGF23 FGFR3 HRAS KRAS NRAS PIK3CA
10	Pathways in cancer ³⁸	12.81	FGF23 FGFR3 HRAS KRAS NRAS PIK3CA
11	MAPK-Erk Pathway ⁶⁸ Show member pathways Actin Dynamics Signaling Pathway ⁶⁸ G Protein-coupled Receptors Signaling ⁶⁸	12.8	HRAS KRAS NRAS PIK3CA
12	MAPK signaling pathway ¹ ³⁸	12.79	FGF23 FGFR3 HRAS KRAS NRAS
13	Gastric cancer ³⁸ Show member pathways Breast cancer ³⁸ Hepatocellular carcinoma ³⁸	12.78	FGF23 HRAS KRAS NRAS PIK3CA
14	Development HGF signaling pathway ²³ Show member pathways Apoptosis and survival Anti-apoptotic action of membrane-bound ESR1 ²³ Apoptosis and survival NGF signaling pathway ²³ Apoptosis and survival Role of CDK5 in neuronal death and survival ²³ Development Neurotrophin family signaling ²³ MET activates PTPN11 ⁶⁷ MET activates STAT3 ⁶⁷ Neurotrophin signaling pathway ³⁸ Signaling events mediated by Hepatocyte Growth Factor Receptor (c-Met) ¹ Signaling of Hepatocyte Growth Factor Receptor ¹	12.71	HRAS KRAS NRAS PIK3CA
15	Ras signaling pathway ³⁸ Show member pathways Rap1 signaling pathway ³⁸	12.68	FGF23 FGFR3 HRAS KRAS NRAS PIK3CA
16	Development Endothelin-1/EDNRA signaling ²³ Show member pathways Cytoskeleton remodeling FAK signaling ²³ Development Endothelin-1/EDNRA transactivation of EGFR ²³ GnRH signaling pathway ³⁸ Inflammatory mediator regulation of TRP channels ³⁸	12.67	HRAS KRAS NRAS PIK3CA
17	Glioma ³⁸ Show member pathways Endocrine resistance ³⁸ Melanoma ³⁸ Non-small cell lung cancer ³⁸ Signaling Pathways in Glioblastoma ¹	12.65	FGF23 FGFR3 HRAS KRAS NRAS PIK3CA
18	Downstream signaling events of B Cell Receptor (BCR) ⁶⁷ Show member pathways Activation of RAS in B cells ⁶⁷ Signaling by the B Cell Receptor (BCR) ⁶⁷	12.65	FGF23 FGFR3 HRAS KRAS NRAS PIK3CA
19	ErbB signaling pathway ¹ ³⁸ Show member pathways EGFR Inhibitor Pathway, Pharmacodynamics ⁶² EGFR tyrosine kinase inhibitor resistance ³⁸ Renal cell carcinoma ³⁸ TCA Cycle Nutrient Utilization and Invasiveness of Ovarian Cancer ¹	12.6	HRAS KRAS NRAS PIK3CA
20	Immune response IL-23 signaling pathway ²³ Show member pathways Angiopoietin receptor Tie2-mediated signaling ¹ Angiopoietin-TIE2 Signaling ⁶⁵ Development Angiopoietin - Tie2 signaling ²³ Development PDGF signaling via STATs and NF-kB ²³ IL23-mediated signaling events ¹ Immune response IL-10 signaling pathway ²³ Rac1/Pak1/p38/MMP-2 pathway ¹	12.59	HRAS KRAS NRAS PIK3CA
21	Immune response Fc epsilon RI pathway ²³ Show member pathways Fc epsilon RI signaling pathway ³⁸ Fc-epsilon receptor I signaling in mast cells ¹ Immune response BCR pathway ²³ VEGF signaling pathway ³⁸	12.59	HRAS KRAS NRAS PIK3CA
22	T cell receptor signaling pathway ³⁸ Show member pathways PD-L1 expression and PD-1 checkpoint pathway in cancer ³⁸ T-Cell antigen Receptor (TCR) Signaling Pathway ¹ T-Cell antigen Receptor (TCR) pathway during Staphylococcus aureus infection ¹	12.58	HRAS KRAS NRAS PIK3CA
23	Development EGFR signaling pathway ²³ Show member pathways Development ERBB-family signaling ²³ EGF Pathway ⁶⁵ EGFR Signaling Pathway ⁶⁸ ErbB receptor signaling network ¹	12.54	HRAS KRAS NRAS PIK3CA
24	MicroRNAs in cancer ³⁸	12.54	FGFR3 HRAS KRAS NRAS PIK3CA
25	Immune response Role of DAP12 receptors in NK cells ²³ Show member pathways Immune response CD16 signaling in NK cells ²³ Natural killer cell mediated cytotoxicity ³⁸	12.53	HRAS KRAS NRAS PIK3CA
26	mTOR signaling pathway (KEGG) ³⁸ Show member pathways mTOR Signaling Pathway ⁶⁶	12.51	FGFR3 HRAS KRAS NRAS PIK3CA
27	Prolactin Signaling Pathway ¹ ³⁸ Show member pathways Development Prolactin receptor signaling ²³ Leptin signaling pathway ¹	12.5	HRAS KRAS NRAS PIK3CA
28	Regulation of actin cytoskeleton ³⁸ ¹	12.5	FGF23 FGFR3 HRAS KRAS NRAS PIK3CA
29	MET promotes cell motility ⁶⁷ Show member pathways Alpha 6 Beta 4 signaling pathway ¹ Laminin interactions ⁶⁷ MET activates PTK2 signaling ⁶⁷ MET activates RAP1 and RAC1 ⁶⁷ MET activates RAS signaling ⁶⁷ MET interacts with TNS proteins ⁶⁷ MET Receptor Activation ⁶⁷ MET receptor recycling ⁶⁷ Non-integrin membrane-ECM interactions ⁶⁷ Signaling by MET ⁶⁷ Syndecan interactions ⁶⁷	12.49	HRAS KRAS NRAS PIK3CA
30	VEGF Pathway (Qiagen) ⁶⁵ Show member pathways CCKBR-Gastrin Stimulated Signaling ⁶⁵ Development VEGF-family signaling ²³ Neurophilin interactions with VEGF and VEGFR ⁶⁷ VEGF Family Ligands and Receptor Interactions ⁶⁵	12.43	HRAS KRAS NRAS PIK3CA
31	Phospholipase D signaling pathway ³⁸ Show member pathways Choline metabolism in cancer ³⁸	12.43	HRAS KRAS NRAS PIK3CA
32	Apoptosis Pathway ⁷³ Show member pathways Akt Pathway ⁷³ NF-kappaB Pathway ⁷³	12.43	FGFR3 HRAS KRAS NRAS PIK3CA
33	JAK-STAT signaling pathway (KEGG) ⁶⁶ Show member pathways Interleukin-19, 20, 22, 24 ⁶⁷ JAK-STAT signaling pathway ³⁸	12.42	HRAS KRAS NRAS PIK3CA
34	B cell receptor signaling pathway (KEGG) ³⁸ Show member pathways B Cell Receptor Signaling Pathway ¹ BCR signaling pathway ¹	12.41	HRAS KRAS NRAS PIK3CA
35	Human T-cell leukemia virus 1 infection ³⁸	12.39	HRAS KRAS NRAS PIK3CA
36	B Cell Receptor Signaling Pathway (sino) ⁶⁸ Show member pathways T Cell Receptor Signaling Pathway ⁶⁸	12.36	HRAS KRAS NRAS PIK3CA
37	G-protein signaling RAC1 in cellular process ²³ Show member pathways CDC42 signaling events ¹ Cytoskeleton remodeling CDC42 in cellular processes ²³ RAC1 signaling pathway ¹	12.36	FGF23 FGFR3 HRAS KRAS NRAS PIK3CA
38	Signaling by ERBB2 ⁶⁷ Show member pathways Downregulation of ERBB2 signaling ⁶⁷ Downregulation of ERBB2-ERBB3 signaling ⁶⁷ ERBB2 Activates PTK6 Signaling ⁶⁷ ERBB2 Regulates Cell Motility ⁶⁷ GRB2 events in ERBB2 signaling ⁶⁷ GRB7 events in ERBB2 signaling ⁶⁷ PI3K events in ERBB2 signaling ⁶⁷ PI3K events in ERBB4 signaling ⁶⁷ PLCG1 events in ERBB2 signaling ⁶⁷ SHC1 events in ERBB2 signaling ⁶⁷ SHC1 events in ERBB4 signaling ⁶⁷	12.35	HRAS KRAS NRAS PIK3CA
39	Proteoglycans in cancer ³⁸	12.33	HRAS KRAS NRAS PIK3CA
40	Viral carcinogenesis ³⁸	12.33	HRAS KRAS NRAS PIK3CA
41	Cell surface interactions at the vascular wall ⁶⁷ Show member pathways Fibronectin matrix formation ⁶⁷ PECAM1 interactions ⁶⁷ Tie2 Signaling ⁶⁷	12.27	HRAS KRAS NRAS PIK3CA
42	Axon guidance ³⁸	12.27	HRAS KRAS NRAS PIK3CA
43	VEGF Signaling Pathway ⁶⁸ ⁶² Show member pathways Nanoparticle-mediated activation of receptor signaling ¹ TGF-beta Signaling ⁶⁸	12.27	FGFR3 HRAS KRAS NRAS
44	Development FGFR signaling pathway ²³ Show member pathways Development FGF-family signaling ²³ Development Flt3 signaling ²³ FGF Pathway ⁶⁵	12.26	FGF23 FGFR3 HRAS KRAS NRAS PIK3CA
45	C-type lectin receptor signaling pathway ³⁸ Show member pathways Pathogen or Damage-activated C-Type Lectin Receptor Signaling Pathways ⁶⁶	12.25	HRAS KRAS NRAS PIK3CA
46	G-protein signaling Regulation of p38 and JNK signaling mediated by G-proteins ²³ Show member pathways G-protein signaling G-Protein alpha-12 signaling pathway ²³	12.24	HRAS KRAS MMP12 NRAS PIK3CA
47	GDNF-Family Ligands and Receptor Interactions ⁶⁵ Show member pathways BDNF Pathway ⁶⁵ Development GDNF family signaling ²³	12.23	HRAS KRAS NRAS PIK3CA
48	Cellular senescence (KEGG) ³⁸	12.21	HRAS KRAS NRAS PIK3CA
49	mTOR Pathway ⁷³ Show member pathways Insulin Pathway ⁷³ TGF-beta Pathway ⁷³	12.21	HRAS KRAS NRAS PIK3CA
50	MAPK Signaling: Mitogen Stimulation Pathway ⁶⁶ Show member pathways Akt Signaling Pathway ⁶⁶	12.2	FGFR3 HRAS KRAS NRAS PIK3CA

Sources

GO Terms for Nevus, Epidermal

Biological processes related to Nevus, Epidermal according to GeneCards Suite gene sharing:

(show all 11)

#	Name	GO ID	Score	Top Affiliating Genes
1	positive regulation of protein kinase B signaling	GO:0051897	9.67	FGF23 FGFR3 PIK3CA
2	negative regulation of neuron apoptotic process	GO:0043524	9.63	HRAS KRAS PIK3CA
3	cornification	GO:0070268	9.54	KRT1 KRT10 KRT16
4	Ras protein signal transduction	GO:0007265	9.5	HRAS KRAS NRAS
5	regulation of long-term neuronal synaptic plasticity	GO:0048169	9.48	HRAS KRAS
6	establishment of skin barrier	GO:0061436	9.43	KRT1 KRT16
7	stimulatory C-type lectin receptor signaling pathway	GO:0002223	9.33	HRAS KRAS NRAS
8	response to isolation stress	GO:0035900	9.26	HRAS KRAS
9	phosphatidylinositol phosphorylation	GO:0046854	9.1	PIK3CA
10	MAPK cascade	GO:0000165	9.02	FGF23 FGFR3 HRAS KRAS NRAS
11	phosphatidylinositol-3-phosphate biosynthetic process	GO:0036092	8.65	PIK3CA

Molecular functions related to Nevus, Epidermal according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	nucleotide binding	GO:0000166	9.56	FGFR3 HRAS KRAS NRAS
2	structural constituent of epidermis	GO:0030280	9.16	KRT1 KRT10
3	phosphatidylinositol-4,5-bisphosphate 3-kinase activity	GO:0046934	8.65	PIK3CA
4	1-phosphatidylinositol-3-kinase activity	GO:0016303	8.32	PIK3CA

Sources

Sources for Nevus, Epidermal

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Nevus, Epidermal (KNEN)

Aliases & Classifications for Nevus, Epidermal

MalaCards integrated aliases for Nevus, Epidermal:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Nevus, Epidermal

Related Diseases for Nevus, Epidermal

Diseases related to Nevus, Epidermal via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Nevus, Epidermal:

Symptoms & Phenotypes for Nevus, Epidermal

Human phenotypes related to Nevus, Epidermal:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

UMLS symptoms related to Nevus, Epidermal:

GenomeRNAi Phenotypes related to Nevus, Epidermal according to GeneCards Suite gene sharing:

MGI Mouse Phenotypes related to Nevus, Epidermal:

Drugs & Therapeutics for Nevus, Epidermal

Drugs for Nevus, Epidermal (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

Interventional clinical trials:

Genetic Tests for Nevus, Epidermal

Genetic tests related to Nevus, Epidermal:

Anatomical Context for Nevus, Epidermal

MalaCards organs/tissues related to Nevus, Epidermal:

Publications for Nevus, Epidermal

Articles related to Nevus, Epidermal:

Genes for Nevus, Epidermal

Genes related to Nevus, Epidermal (5 elite genes):

Variations for Nevus, Epidermal

UniProtKB/Swiss-Prot genetic disease variations for Nevus, Epidermal:

ClinVar genetic disease variations for Nevus, Epidermal:

Expression for Nevus, Epidermal

Pathways for Nevus, Epidermal

Pathways related to Nevus, Epidermal according to GeneCards Suite gene sharing:

GO Terms for Nevus, Epidermal

Biological processes related to Nevus, Epidermal according to GeneCards Suite gene sharing:

Molecular functions related to Nevus, Epidermal according to GeneCards Suite gene sharing:

Sources for Nevus, Epidermal