MCID: EPD053
MIFTS: 50

Epidermal Nevus, Somatic malady

Genetic diseases, Eye diseases, Skin diseases, Cancer diseases, Rare diseases categories

Summaries for Epidermal Nevus, Somatic

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OMIM:45 Epidermal nevi are congenital lesions that affect about 1 in 1,000 people. They appear at or shortly after birth as... (162900) more...

MalaCards based summary: Epidermal Nevus, Somatic, also known as epidermal nevus syndrome, is related to neurofibromatosis and medulloblastoma, and has symptoms including autosomal dominant inheritance, melanocytic nevus and numerous nevi. An important gene associated with Epidermal Nevus, Somatic is FGFR3 (fibroblast growth factor receptor 3), and among its related pathways are EGFR Transactivation by Gastrin and Thyroid cancer. The compounds farnesyl diphosphate and erlotinib have been mentioned in the context of this disorder. Affiliated tissues include skin and eye, and related mouse phenotypes are limbs/digits/tail and normal.

Genetics Home Reference:21 An epidermal nevus (plural: nevi) is an abnormal, noncancerous (benign) patch of skin caused by an overgrowth of skin cells. Epidermal nevi are typically seen at birth or develop in early childhood. They can be flat, tan patches of skin or raised, velvety patches. As the affected individual ages, the nevus can 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. The lines of Blaschko, which are invisible on skin, are thought to follow the paths along which cells migrate as the skin develops before birth.

Aliases & Classifications for Epidermal Nevus, Somatic

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Sources:
45OMIM, 10diseasecard, 60UMLS, 21Genetics Home Reference, 43Novoseek, 47Orphanet, 22GTR, 61UMLS via Orphanet, 34MESH via Orphanet, 26ICD10 via Orphanet
See all sources

Epidermal Nevus, Somatic, Aliases & Descriptions:

Name: Epidermal Nevus, Somatic 45 10
Epidermal Nevus Syndrome 43 47 22
Nevus, Epidermal 45 60
Nevus, Sebaceous of Jadassohn 60
Epidermal Hamartoma Syndrome 47
 
Organoid Nevus Phakomatosis 60
Nevus, Epidermal, Somatic 45
Nevus Sebaceous, Somatic 45
Epidermal Naevus 21
Epidermal Nevus 21


Classifications:



Characteristics (Orphanet epidemiological data):

47
epidermal nevus syndrome:
Inheritance: Not applicable; Age of onset: Infancy,Neonatal


External Ids:

OMIM45 162900
Orphanet47 35125
UMLS via Orphanet61 C0334082
MESH via Orphanet34 C536114, D054000
ICD10 via Orphanet26 Q85.8

Related Diseases for Epidermal Nevus, Somatic

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

(show top 50)    (show all 125)
idRelated DiseaseScoreTop Affiliating Genes
1neurofibromatosis30.3KRAS, HRAS
2medulloblastoma29.9HRAS, PIK3CA
3adenoma29.9KRAS, NRAS, HRAS
4melanoma29.2KRAS, FGFR3, NRAS, PIK3CA, HRAS
5rickets10.6
6psoriasis10.6
7hypophosphatemic rickets10.4
8acanthosis nigricans10.4
9basal cell carcinoma10.4
10hemimegalencephaly10.4
11cardiofaciocutaneous syndrome10.4KRAS
12leopard syndrome10.4HRAS
13epidermolytic hyperkeratosis10.4
14lipoma10.4
15cerebritis10.4
16becker nevus syndrome10.4
17precocious puberty10.4
18hemangioma10.3
19neuronitis10.3
20acanthoma10.3
21rhabdomyosarcoma10.3
22epidermal nevus vitamin d resistant rickets10.3
23segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus10.3
24woolly hair nevus10.3
25clear cell acanthoma10.2
26ameloblastoma10.2
27blepharophimosis10.2
28gingivitis10.2
29hypertrichosis10.2
30keratoacanthoma10.2
31transitional cell carcinoma10.2
32linear and whorled nevoid hypermelanosis10.2
33phacomatosis pigmentokeratotica10.2
34central precocious puberty10.2
35choristoma10.2
36costello syndrome10.2KRAS, HRAS
37skin benign neoplasm10.2HRAS, FGFR3
38developmental disabilities10.2FGFR3, HRAS
39large cell carcinoma10.2HRAS, KRAS
40thyroid carcinoma, follicular10.2NRAS, HRAS
41papilloma10.2FGFR3, HRAS
42bone marrow cancer10.2KRAS, NRAS
43multiple myeloma10.1HRAS, FGFR3
44lynch syndrome10.1KRAS, NRAS
45bladder cancer, somatic10.1FGFR3, HRAS
46keratosis, seborrheic, somatic10.1PIK3CA, FGFR3
47glomuvenous malformations10.1
48alopecia10.1
49burn scar10.1
50burns10.1

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



Diseases related to epidermal nevus, somatic

Symptoms for Epidermal Nevus, Somatic

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Symptoms by clinical synopsis from OMIM:

162900

Clinical features from OMIM:

162900

HPO human phenotypes related to Epidermal Nevus, Somatic:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 melanocytic nevus HP:0000995
3 numerous nevi HP:0001054

Drugs & Therapeutics for Epidermal Nevus, Somatic

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Drug clinical trials:

Search ClinicalTrials for Epidermal Nevus, Somatic

Search NIH Clinical Center for Epidermal Nevus, Somatic

Genetic Tests for Epidermal Nevus, Somatic

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Genetic tests related to Epidermal Nevus, Somatic:

id Genetic test Affiliating Genes
1 Epidermal Nevus22
2 Epidermal Nevus Syndrome22

Anatomical Context for Epidermal Nevus, Somatic

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MalaCards organs/tissues related to Epidermal Nevus, Somatic:

31
Skin, Eye

Animal Models for Epidermal Nevus, Somatic or affiliated genes

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MGI Mouse Phenotypes related to Epidermal Nevus, Somatic:

35 (show all 14)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.9FGFR3, KRAS, NRAS
2MP:00028738.5FGFR3, HRAS, KRAS, NRAS
3MP:00030128.3PIK3CA, NRAS, HRAS, FGFR3
4MP:00053918.3FGFR3, KRAS, NRAS, PIK3CA
5MP:00053868.2PIK3CA, KRAS, HRAS, FGFR3
6MP:00036318.2FGFR3, HRAS, KRAS, PIK3CA
7MP:00053858.1PIK3CA, NRAS, KRAS, HRAS
8MP:00053878.0FGFR3, KRAS, NRAS, PIK3CA
9MP:00020067.8FGFR3, HRAS, KRAS, NRAS, PIK3CA
10MP:00107717.8PIK3CA, NRAS, KRAS, HRAS, FGFR3
11MP:00053787.8FGFR3, HRAS, KRAS, NRAS, PIK3CA
12MP:00053847.8PIK3CA, NRAS, KRAS, FGFR3
13MP:00053767.7PIK3CA, NRAS, KRAS, HRAS, FGFR3
14MP:00107687.7PIK3CA, NRAS, KRAS, HRAS, FGFR3

Publications for Epidermal Nevus, Somatic

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Variations for Epidermal Nevus, Somatic

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

62
id Symbol AA change Variation ID SNP ID
1FGFR3p.Arg248CysVAR_004148
2FGFR3p.Gly370CysVAR_004151
3FGFR3p.Gly380ArgVAR_004155rs28931614
4NRASp.Gln61ArgVAR_006847rs11554290
5NRASp.Gly12AspVAR_071129
6NRASp.Pro34LeuVAR_071130

Clinvar genetic disease variations for Epidermal Nevus, Somatic:

6 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1KRASNM_033360.3(KRAS): c.35G> A (p.Gly12Asp)single nucleotide variantPathogenic, drug responsers121913529GRCh37Chr 12, 25398284: 25398284
2HRASNM_005343.2(HRAS): c.35G> T (p.Gly12Val)single nucleotide variantPathogenicrs104894230GRCh37Chr 11, 534288: 534288
3HRASNM_005343.2(HRAS): c.34G> T (p.Gly12Cys)single nucleotide variantPathogenicrs104894229GRCh37Chr 11, 534289: 534289
4PIK3CANM_006218.2(PIK3CA): c.1634A> G (p.Glu545Gly)single nucleotide variantPathogenicrs121913274GRCh37Chr 3, 178936092: 178936092
5NRASNM_002524.4(NRAS): c.182A> G (p.Gln61Arg)single nucleotide variantPathogenicrs11554290GRCh37Chr 1, 115256529: 115256529
6FGFR3NM_000142.4(FGFR3): c.1138G> A (p.Gly380Arg)single nucleotide variantPathogenicrs28931614GRCh37Chr 4, 1806119: 1806119
7FGFR3NM_000142.4(FGFR3): c.742C> T (p.Arg248Cys)single nucleotide variantPathogenicrs121913482GRCh37Chr 4, 1803564: 1803564
8FGFR3NM_000142.4(FGFR3): c.1138G> A (p.Gly380Arg)single nucleotide variantPathogenicrs28931614GRCh37Chr 4, 1806119: 1806119
9FGFR3NM_000142.4(FGFR3): c.1108G> T (p.Gly370Cys)single nucleotide variantPathogenicrs121913479GRCh37Chr 4, 1806089: 1806089
10HRASNM_005343.2(HRAS): c.37G> C (p.Gly13Arg)single nucleotide variantPathogenicrs104894228GRCh37Chr 11, 534286: 534286
11NRASNM_002524.4(NRAS): c.101C> T (p.Pro34Leu)single nucleotide variantPathogenicrs397514553GRCh37Chr 1, 115258681: 115258681
12NRASNM_002524.4(NRAS): c.35G> A (p.Gly12Asp)single nucleotide variantPathogenicrs121913237GRCh37Chr 1, 115258747: 115258747

Cosmic variations for Epidermal Nevus, Somatic:

7 (show all 84)
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Conf
1131774ERBB4skin,scalp,malignant melanoma,vertical growth phase3
294231ERBB4skin,face,malignant melanoma,NS3
3131764ERBB4skin,face,malignant melanoma,NS3
4131775ERBB4skin,face,malignant melanoma,NS3
5131770ERBB4skin,face,malignant melanoma,NS3
6457BRAFskin,face,malignant melanoma,NS3
71130BRAFskin,scalp,malignant melanoma,vertical growth phase3
8476BRAFskin,face,malignant melanoma,NS3
927331BRAFskin,scalp,malignant melanoma,vertical growth phase3
101131BRAFskin,scalp,malignant melanoma,vertical growth phase3
11484HRASskin,scalp,other,nevus sebaceous3
1213204HRASskin,scalp,other,nevus sebaceous3
13481HRASskin,face,other,nevus sebaceous3
14486HRASskin,scalp,other,nevus sebaceous3
15480HRASskin,scalp,other,nevus sebaceous3
161651649KITskin,scalp,malignant melanoma,vertical growth phase3
171257KITskin,scalp,malignant melanoma,vertical growth phase3
181293KITskin,scalp,malignant melanoma,vertical growth phase3
191290KITskin,scalp,malignant melanoma,vertical growth phase3
201694404PDGFRAskin,scalp,malignant melanoma,vertical growth phase3
21131791PDGFRAskin,face,malignant melanoma,NS3
22131789PDGFRAskin,scalp,malignant melanoma,vertical growth phase3
23580NRASskin,scalp,malignant melanoma,vertical growth phase3
24583NRASskin,scalp,malignant melanoma,vertical growth phase3
25109634GRIN2Askin,scalp,malignant melanoma,vertical growth phase3
26109484GRIN2Askin,face,malignant melanoma,NS3
2712476CDKN2Askin,face,malignant melanoma,NS3
2812550CDKN2Askin,scalp,malignant melanoma,vertical growth phase3
29520KRASskin,scalp,other,nevus sebaceous3
30521KRASskin,face,other,nevus sebaceous3
311167948NF1skin,face,malignant melanoma,NS3
321167922NF1skin,face,malignant melanoma,NS3
3345679TP53skin,scalp,malignant melanoma,vertical growth phase3
3444226TP53skin,scalp,malignant melanoma,vertical growth phase3
351686342IRAK1skin,scalp,malignant melanoma,vertical growth phase3
361704990ING4skin,scalp,malignant melanoma,vertical growth phase3
3728747IDH1skin,face,malignant melanoma,NS3
381689975KIAA1804skin,scalp,malignant melanoma,vertical growth phase3
391714285LIMK2skin,scalp,malignant melanoma,vertical growth phase3
401708324LCTLskin,scalp,malignant melanoma,vertical growth phase3
411706975ITGBL1skin,scalp,malignant melanoma,vertical growth phase3
42228236ISXskin,scalp,malignant melanoma,vertical growth phase3
431709180IRX6skin,scalp,malignant melanoma,vertical growth phase3
441699380EXOC4skin,scalp,malignant melanoma,vertical growth phase3
451067020CDH12skin,scalp,malignant melanoma,vertical growth phase3
46564586CDH19skin,scalp,malignant melanoma,vertical growth phase3
471702204ARMC4skin,scalp,malignant melanoma,vertical growth phase3
481702528ANK3skin,scalp,malignant melanoma,vertical growth phase3
491710698ABCA10skin,scalp,malignant melanoma,vertical growth phase3
501705392ABCD2skin,scalp,malignant melanoma,vertical growth phase3
511705702AMHR2skin,scalp,malignant melanoma,vertical growth phase3
521703545CYB5R2skin,scalp,malignant melanoma,vertical growth phase3
531693265FBXO40skin,scalp,malignant melanoma,vertical growth phase3
54714FGFR3skin,scalp,epidermal nevus,common hard3
55131725FLT1skin,face,malignant melanoma,NS3
561713403ERGIC3skin,scalp,malignant melanoma,vertical growth phase3
57131742EPHA10skin,face,malignant melanoma,NS3
58131759EPHB6skin,scalp,malignant melanoma,vertical growth phase3
591702320FRMPD2skin,scalp,malignant melanoma,vertical growth phase3
601698431MPP6skin,scalp,malignant melanoma,vertical growth phase3
611685834RAP1Askin,scalp,malignant melanoma,vertical growth phase3
621685878SLC9A2skin,scalp,malignant melanoma,vertical growth phase3
631706344TAOK3skin,scalp,malignant melanoma,vertical growth phase3
64125734RAC1skin,face,malignant melanoma,NS3
651699651PTPRN2skin,scalp,malignant melanoma,vertical growth phase3
66142710PTPRTskin,scalp,malignant melanoma,vertical growth phase3
67131813TIE1skin,face,malignant melanoma,NS3
681687104UBR4skin,scalp,malignant melanoma,vertical growth phase3
691703682UEVLDskin,scalp,malignant melanoma,vertical growth phase3
701685943TNK2skin,scalp,malignant melanoma,vertical growth phase3
71142812PTPREskin,face,malignant melanoma,NS3
72764PIK3CAskin,scalp,epidermal nevus,common hard3
731701806PKN3skin,scalp,malignant melanoma,vertical growth phase3
74131785NTRK1skin,face,malignant melanoma,NS3
751699686MYOM2skin,scalp,malignant melanoma,vertical growth phase3
76131781METskin,face,malignant melanoma,NS3
77142074MMP28skin,scalp,malignant melanoma,vertical growth phase3
781693157PLCXD2skin,scalp,malignant melanoma,vertical growth phase3
791706689POSTNskin,scalp,malignant melanoma,vertical growth phase3
801700934PTPRDskin,scalp,malignant melanoma,vertical growth phase3
81142777PTPRCskin,scalp,malignant melanoma,vertical growth phase3
821713464PPP1R16Bskin,scalp,malignant melanoma,vertical growth phase3
835142PTENskin,scalp,malignant melanoma,vertical growth phase3
841690897MERTKskin,scalp,malignant melanoma,vertical growth phase3

Expression for genes affiliated with Epidermal Nevus, Somatic

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

Pathways for genes affiliated with Epidermal Nevus, Somatic

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

(show top 50)    (show all 122)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
EGFR-dependent Endothelin signaling events36
8.8KRAS, NRAS, HRAS
28.8KRAS, NRAS, HRAS
3
Show member pathways
8.8HRAS, KRAS, NRAS
4
Show member pathways
8.8NRAS, KRAS, HRAS
58.8NRAS, KRAS, HRAS
6
Show member pathways
8.4KRAS, NRAS, HRAS, FGFR3
7
Show member pathways
MAPK signaling pathway36
8.4FGFR3, KRAS, HRAS, NRAS
8
Show member pathways
Signal transduction PTEN pathway58
8.0KRAS, NRAS, HRAS, PIK3CA
9
Show member pathways
Development EGFR signaling via PIP358
Development PDGF signaling via MAPK cascades58
Apoptosis and survival Anti apoptotic action of membrane bound ESR158
Signaling of Hepatocyte Growth Factor Receptor36
Development EGFR signaling via small GTPases58
Development Neurotrophin family signaling58
Apoptosis and survival NGF signaling pathway58
Apoptosis and survival Role of CDK5 in neuronal death and survival58
8.0KRAS, HRAS, PIK3CA, NRAS
10
Show member pathways
BCR signaling pathway36
TCR Signaling Pathway36
8.0PIK3CA, HRAS, KRAS, NRAS
11
Show member pathways
Immune response CD16 signaling in NK cells58
8.0HRAS, PIK3CA, KRAS, NRAS
12
Show member pathways
Prolactin Signaling Pathway36
Development Prolactin receptor signaling58
Leptin signaling pathway36
8.0KRAS, HRAS, NRAS, PIK3CA
13
Show member pathways
Immune response BCR pathway58
Fc-epsilon receptor I signaling in mast cells36
8.0PIK3CA, HRAS, KRAS, NRAS
14
Show member pathways
Transcription Receptor mediated HIF regulation58
Development CNTF receptor signaling58
Class IB PI3K non-lipid kinase events36
ErbB2/ErbB3 signaling events36
Development Growth hormone signaling via PI3K AKT and MAPK cascades58
Translation Regulation activity of EIF258
Regulation of lipid metabolism Insulin signaling generic cascades58
Transcription PPAR Pathway58
Cell adhesion PLAU signaling58
Translation Regulation activity of EIF4F58
8.0HRAS, KRAS, PIK3CA, NRAS
158.0HRAS, NRAS, PIK3CA, KRAS
16
Show member pathways
8.0HRAS, KRAS, NRAS, PIK3CA
17
Show member pathways
Toll-like receptor signaling pathway36
Regulation of toll-like receptor signaling pathway36
8.0PIK3CA, KRAS, HRAS, NRAS
188.0HRAS, KRAS, NRAS, PIK3CA
19
Show member pathways
8.0HRAS, PIK3CA, NRAS, KRAS
20
Show member pathways
Cytoskeleton remodeling FAK signaling58
Development Endothelin 1 EDNRA transactivation of EGFR58
8.0HRAS, PIK3CA, KRAS, NRAS
218.0NRAS, HRAS, PIK3CA, KRAS
22
Show member pathways
8.0HRAS, KRAS, NRAS, PIK3CA
23
Show member pathways
PLK2 and PLK4 events36
Polo-like kinase signaling events in the cell cycle36
8.0HRAS, NRAS, KRAS, PIK3CA
24
Show member pathways
Development EDNRB signaling58
Development ACM2 and ACM4 activation of ERK58
Cell adhesion Integrin inside out signaling58
Development G Proteins mediated regulation MARK ERK signaling58
Signal transduction IP3 signaling58
Development Angiotensin signaling via PYK258
Development EPO induced MAPK pathway58
8.0HRAS, KRAS, NRAS, PIK3CA
258.0PIK3CA, KRAS, HRAS, NRAS
268.0HRAS, KRAS, NRAS, PIK3CA
27
Show member pathways
8.0HRAS, PIK3CA, KRAS, NRAS
28
Show member pathways
8.0PIK3CA, KRAS, NRAS, HRAS
29
Show member pathways
ErbB receptor signaling network36
ErbB signaling pathway36
8.0HRAS, NRAS, PIK3CA, KRAS
308.0HRAS, KRAS, NRAS, PIK3CA
31
Show member pathways
8.0HRAS, NRAS, KRAS, PIK3CA
328.0HRAS, NRAS, PIK3CA, KRAS
33
Show member pathways
8.0NRAS, KRAS, PIK3CA, HRAS
34
Show member pathways
8.0NRAS, KRAS, PIK3CA, HRAS
35
Show member pathways
7.5FGFR3, HRAS, PIK3CA, KRAS, NRAS
36
Show member pathways
7.5KRAS, NRAS, PIK3CA, HRAS, FGFR3
377.5KRAS, NRAS, HRAS, PIK3CA, FGFR3
38
Show member pathways
7.5HRAS, FGFR3, KRAS, PIK3CA, NRAS
39
Show member pathways
Signaling Pathways in Glioblastoma36
7.5PIK3CA, KRAS, HRAS, NRAS, FGFR3
40
Show member pathways
7.5PIK3CA, NRAS, KRAS, HRAS, FGFR3
41
Show member pathways
7.5FGFR3, PIK3CA, NRAS, KRAS, HRAS
42
Show member pathways
7.5NRAS, PIK3CA, FGFR3, KRAS, HRAS
437.5PIK3CA, KRAS, HRAS, FGFR3, NRAS
44
Show member pathways
7.5KRAS, PIK3CA, NRAS, HRAS, FGFR3
45
Show member pathways
7.5KRAS, PIK3CA, NRAS, HRAS, FGFR3
46
Show member pathways
7.5PIK3CA, NRAS, HRAS, FGFR3, KRAS
477.5KRAS, PIK3CA, NRAS, FGFR3, HRAS
487.5PIK3CA, HRAS, KRAS, FGFR3, NRAS
49
Show member pathways
7.5FGFR3, HRAS, KRAS, NRAS, PIK3CA
50
Show member pathways
7.5KRAS, HRAS, FGFR3, NRAS, PIK3CA

Compounds for genes affiliated with Epidermal Nevus, Somatic

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Compounds related to Epidermal Nevus, Somatic according to GeneCards Suite gene sharing:

(show all 29)
idCompoundScoreTop Affiliating Genes
1farnesyl diphosphate43 28 1211.7KRAS, HRAS
2erlotinib43 49 1211.4KRAS, PIK3CA
3gefitinib43 49 1211.3KRAS, PIK3CA
4paraffin439.3FGFR3, HRAS, KRAS
5imatinib43 49 1211.0PIK3CA, KRAS, FGFR3
6phosphotyrosine439.0PIK3CA, HRAS, FGFR3
7Guanosine triphosphate249.0HRAS, KRAS, NRAS
8crcs439.0HRAS, KRAS, PIK3CA
9doxorubicin43 49 1211.0FGFR3, HRAS, PIK3CA
10paclitaxel43 49 1211.0HRAS, KRAS, PIK3CA
11rapamycin438.9PIK3CA, KRAS, HRAS
12ly294002438.9HRAS, KRAS, PIK3CA
13wortmannin438.9PIK3CA, KRAS, HRAS
14phosphoinositide438.9PIK3CA, KRAS, HRAS
15gtp43 289.9HRAS, KRAS, PIK3CA
16agar438.9HRAS, NRAS, PIK3CA
17bromodeoxyuridine438.8HRAS, PIK3CA
18cisplatin43 49 59 1211.8PIK3CA, KRAS, HRAS
19arginine438.8PIK3CA, HRAS, FGFR3
20h2o2438.8PIK3CA, KRAS, HRAS
21oligonucleotide438.7NRAS, KRAS, HRAS, FGFR3
22threonine438.7PIK3CA, HRAS, FGFR3
23phosphatidylinositol438.7HRAS, KRAS, PIK3CA
24retinoic acid43 249.6HRAS, KRAS, PIK3CA
25vegf438.5FGFR3, HRAS, KRAS, PIK3CA
26estrogen438.5HRAS, KRAS, PIK3CA
27lipid438.5FGFR3, HRAS, KRAS, PIK3CA
28serine438.4PIK3CA, KRAS, HRAS, FGFR3
29tyrosine437.9PIK3CA, NRAS, KRAS, HRAS, FGFR3

GO Terms for genes affiliated with Epidermal Nevus, Somatic

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Cellular components related to Epidermal Nevus, Somatic according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1plasma membraneGO:00058867.5FGFR3, HRAS, KRAS, NRAS, PIK3CA

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

(show all 28)
idNameGO IDScoreTop Affiliating Genes
1social behaviorGO:00351769.5KRAS, HRAS
2positive regulation of MAPK cascadeGO:00434109.5FGFR3, HRAS
3positive regulation of MAP kinase activityGO:00434069.5HRAS, KRAS
4positive regulation of ERK1 and ERK2 cascadeGO:00703749.4HRAS, FGFR3
5phosphatidylinositol-mediated signalingGO:00480159.2FGFR3, PIK3CA
6positive regulation of Rac protein signal transductionGO:00350229.2HRAS, KRAS, NRAS
7regulation of synaptic transmission, GABAergicGO:00322289.2HRAS, KRAS, NRAS
8striated muscle cell differentiationGO:00511469.1NRAS, KRAS, HRAS
9positive regulation of protein phosphorylationGO:00019349.1HRAS, KRAS
10regulation of long-term neuronal synaptic plasticityGO:00481699.1HRAS, KRAS, NRAS
11visual learningGO:00085429.1NRAS, KRAS, HRAS
12activation of MAPKK activityGO:00001869.1HRAS, KRAS, NRAS
13Ras protein signal transductionGO:00072659.1HRAS, KRAS, NRAS
14GTP catabolic processGO:00061849.0NRAS, KRAS, HRAS
15actin cytoskeleton organizationGO:00300369.0HRAS, KRAS, NRAS
16small GTPase mediated signal transductionGO:00072649.0NRAS, KRAS, HRAS
17axon guidanceGO:00074119.0HRAS, KRAS, NRAS
18MAPK cascadeGO:00001658.7NRAS, KRAS, HRAS, FGFR3
19positive regulation of cell proliferationGO:00082848.6NRAS, KRAS, HRAS, FGFR3
20leukocyte migrationGO:00509008.3HRAS, KRAS, NRAS, PIK3CA
21negative regulation of neuron apoptotic processGO:00435248.3PIK3CA, NRAS, KRAS, HRAS
22blood coagulationGO:00075968.2PIK3CA, NRAS, KRAS, HRAS
23insulin receptor signaling pathwayGO:00082867.9FGFR3, HRAS, KRAS, NRAS, PIK3CA
24fibroblast growth factor receptor signaling pathwayGO:00085437.9PIK3CA, NRAS, KRAS, HRAS, FGFR3
25Fc-epsilon receptor signaling pathwayGO:00380957.9PIK3CA, NRAS, KRAS, HRAS, FGFR3
26epidermal growth factor receptor signaling pathwayGO:00071737.9PIK3CA, NRAS, KRAS, HRAS, FGFR3
27neurotrophin TRK receptor signaling pathwayGO:00480117.9PIK3CA, NRAS, KRAS, HRAS, FGFR3
28innate immune responseGO:00450877.8PIK3CA, NRAS, KRAS, HRAS, FGFR3

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

idNameGO IDScoreTop Affiliating Genes
1GTP bindingGO:00055258.8HRAS, KRAS, NRAS

Products for genes affiliated with Epidermal Nevus, Somatic

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Sources for Epidermal Nevus, Somatic

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet