Melanoma in Congenital Melanocytic Nevus disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Melanoma in Congenital Melanocytic Nevus

MalaCards integrated aliases for Melanoma in Congenital Melanocytic Nevus:

Name: Melanoma in Congenital Melanocytic Nevus ¹¹ ¹⁴

Malignant Melanoma in Congenital Melanocytic Nevus ¹¹

Melanocytic Nevi ¹¹

Nevi Melanocytic ⁵³

Classifications:

MalaCards categories:
Global: Cancer diseases
Anatomical: Skin diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹¹ DOID:0070327

NCIt ⁴⁹ C48613

UMLS ⁷¹ C1711221

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Summaries for Melanoma in Congenital Melanocytic Nevus

Disease Ontology: ¹¹ A skin melanoma that arises from a congenital melanocytic nevus.

MalaCards based summary: Melanoma in Congenital Melanocytic Nevus, also known as malignant melanoma in congenital melanocytic nevus, is related to melanocytic nevus syndrome, congenital and lentigines. An important gene associated with Melanoma in Congenital Melanocytic Nevus is MLANA (Melan-A), and among its related pathways/superpathways are Signal Transduction and Beta-Adrenergic Signaling. The drugs Ethanol and Squaric acid dibutyl ester have been mentioned in the context of this disorder. Affiliated tissues include skin, lymph node and smooth muscle, and related phenotypes are Increased shRNA abundance (Z-score > 2) and no phenotypic analysis

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Related Diseases for Melanoma in Congenital Melanocytic Nevus

Diseases related to Melanoma in Congenital Melanocytic Nevus via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 502)

#	Related Disease	Score	Top Affiliating Genes
1	melanocytic nevus syndrome, congenital	32.9	NRAS HRAS
2	lentigines	32.3	TYR RAF1 MC1R BRAF
3	large congenital melanocytic nevus	32.2	NRAS MLANA MITF MC1R HRAS CDKN2A
4	spitz nevus	31.6	HRAS BRAF
5	keratosis	30.8	MC1R HRAS CDKN2A
6	neurofibromatosis	30.8	NRAS HRAS CDKN2A BRAF
7	plexiform neurofibroma	30.7	S100B HRAS CDKN2A
8	vitiligo-associated multiple autoimmune disease susceptibility 1	30.7	TYR PMEL MLANA MITF MC1R
9	conjunctival nevus	30.7	NRAS MLANA HRAS
10	neurofibroma	30.6	TYR S100B S100A1 NGFR MLANA MITF
11	thyroid cancer, nonmedullary, 2	30.6	NRAS HRAS BRAF
12	keratosis, seborrheic	30.6	TYR MLANA MITF MC1R CDKN2A
13	spitzoid melanoma	30.6	NRAS MLANA HRAS CDKN2A
14	histiocytosis	30.5	S100B NRAS BRAF
15	albinism	30.5	TYR MITF HPS1
16	amelanotic melanoma	30.5	TYR S100B NRAS MLANA MITF MC1R
17	neurofibromatosis, type i	30.5	S100B RAF1 NRAS NGFR HRAS CDKN2A
18	ochronosis	30.4	TYR MITF MC1R
19	differentiated thyroid carcinoma	30.4	NRAS HRAS BRAF
20	epidermoid cysts	30.4	S100B S100A6 S100A1
21	skin melanoma	30.4	TYR RAF1 NRAS MLANA MITF MIR21
22	cutaneous ganglioneuroma	30.4	S100A6 MITF HRAS
23	atypical teratoid rhabdoid tumor	30.3	TYR H2AC18 CDKN2A
24	cutaneous fibrous histiocytoma	30.3	S100B S100A1 MLANA MITF
25	neurilemmoma	30.3	TYR S100B S100A1 NGFR MLANA MITF
26	skin benign neoplasm	30.3	TYR MLANA HRAS BRAF
27	malignant spindle cell melanoma	30.3	TYR PMEL NRAS NGFR MLANA MITF
28	leiomyosarcoma	30.3	S100B S100A1 MLANA CDKN2A
29	nodular malignant melanoma	30.3	CDKN2A BRAF TYR PMEL NRAS MLANA
30	melanoma	30.3	TYR S100B S100A6 S100A1 RAF1 PMEL
31	actinic keratosis	30.3	MLANA MC1R H2AC18 CDKN2A
32	malignant peripheral nerve sheath tumor	30.3	S100B S100A6 S100A1 NGFR MITF CDKN2A
33	melanoma, cutaneous malignant 1	30.3	TYR RAF1 PMEL NRAS MLANA MITF
34	acral lentiginous melanoma	30.2	TYR PMEL NRAS MLANA MITF MC1R
35	microphthalmia	30.2	TYR S100B PMEL MLANA MITF MC1R
36	oculocutaneous albinism	30.2	TYR PMEL MITF MC1R HPS1
37	paraganglioma	30.2	S100B MLANA MITF HRAS CDKN2A
38	lynch syndrome	30.2	HRAS H2AC18 CDKN2A BRAF
39	langerhans cell histiocytosis	30.2	S100B S100A1 NRAS HRAS BRAF
40	skin carcinoma	30.1	TYR NRAS MLANA MITF MIR21 MIR199A1
41	sarcoma	30.1	S100B S100A1 RAF1 HRAS BRAF
42	testicular cancer	30.0	TYR PMEL MLANA MIR199A1 KDM4C H2AC18
43	leukemia, chronic myeloid	30.0	RAF1 NRAS MIR199A1 KDM4C HRAS H2AC18
44	breast disease	30.0	MIR21 MIR199A1 KDM4C H2AC18
45	pancreatic ductal adenocarcinoma	29.9	MIR21 MIR199A1 KDM4C HRAS H2AC18
46	hematologic cancer	29.9	MIR21 MIR199A1 KDM4C HRAS H2AC18
47	lymphoma, non-hodgkin, familial	29.9	NRAS MIR21 MIR199A1 KDM4C H2AC18 BRAF
48	wilms tumor 1	29.8	MLANA MIR199A1 KDM4C HRAS H2AC18 CDKN2A
49	skin squamous cell carcinoma	29.8	RAF1 NRAS MIR21 KDM4C HRAS CDKN2A
50	leukemia, acute lymphoblastic	29.8	MIR21 MIR199A1 KDM4C HRAS H2AC18 CDKN2A

Graphical network of the top 20 diseases related to Melanoma in Congenital Melanocytic Nevus:

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Symptoms & Phenotypes for Melanoma in Congenital Melanocytic Nevus

GenomeRNAi Phenotypes related to Melanoma in Congenital Melanocytic Nevus according to GeneCards Suite gene sharing:

²⁵

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased shRNA abundance (Z-score > 2)	GR00366-A-116	9.44	RAF1
2	Increased shRNA abundance (Z-score > 2)	GR00366-A-149	9.44	BRAF
3	Increased shRNA abundance (Z-score > 2)	GR00366-A-150	9.44	KDM4C RAF1
4	Increased shRNA abundance (Z-score > 2)	GR00366-A-151	9.44	RAF1
5	Increased shRNA abundance (Z-score > 2)	GR00366-A-188	9.44	KDM4C
6	Increased shRNA abundance (Z-score > 2)	GR00366-A-209	9.44	KDM4C
7	Increased shRNA abundance (Z-score > 2)	GR00366-A-3	9.44	NRAS
8	Increased shRNA abundance (Z-score > 2)	GR00366-A-47	9.44	BRAF
9	Increased shRNA abundance (Z-score > 2)	GR00366-A-52	9.44	RAF1
10	Increased shRNA abundance (Z-score > 2)	GR00366-A-72	9.44	KDM4C NRAS RAF1

MGI Mouse Phenotypes related to Melanoma in Congenital Melanocytic Nevus:

⁴⁵ (show all 13)

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	no phenotypic analysis	MP:0003012	10.29	CDKN2A HPS1 HRAS KDM4C MC1R MIR199A1
2	homeostasis/metabolism	MP:0005376	10.28	BRAF CDKN2A HPS1 HRAS KDM4C MITF
3	normal	MP:0002873	10.19	BRAF HRAS MITF MMP14 NGFR NRAS
4	pigmentation	MP:0001186	10.18	BRAF CDKN2A HPS1 MC1R MITF MLANA
5	neoplasm	MP:0002006	10.11	BRAF CDKN2A HRAS KDM4C MC1R NRAS
6	cellular	MP:0005384	10.1	BRAF CDKN2A HPS1 KDM4C MC1R MITF
7	behavior/neurological	MP:0005386	10.1	BRAF CDKN2A HRAS MC1R MITF MMP14
8	craniofacial	MP:0005382	10.07	BRAF HPS1 HRAS MC1R MITF MMP14
9	limbs/digits/tail	MP:0005371	10.06	BRAF HPS1 MC1R MITF MMP14 NGFR
10	hearing/vestibular/ear	MP:0005377	10.01	BRAF HPS1 MC1R MITF MMP14 NGFR
11	respiratory system	MP:0005388	9.76	BRAF CDKN2A HPS1 HRAS MMP14 NGFR
12	vision/eye	MP:0005391	9.65	BRAF CDKN2A HPS1 MITF MMP14 NGFR
13	integument	MP:0010771	9.5	BRAF CDKN2A HPS1 HRAS KDM4C MC1R

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Drugs & Therapeutics for Melanoma in Congenital Melanocytic Nevus

Drugs for Melanoma in Congenital Melanocytic Nevus (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)

#

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

1

Ethanol

Approved

Early Phase 1

64-17-5

702

Synonyms:

[CH2Me(OH)]

[OEtH]

1-Hydroxyethane

ABLYSINOL

Absolute alcohol

Absolute ethanol

Absolute ethyl alcohol

Aethanol

Aethylalkohol

Alcare hand degermer

Alcohol

Alcohol (ethyl)

Alcohol anhydrous

Alcohol denatured

ALCOHOL DETERMINATION--ALCOHOL

Alcohol etilico

Alcohol etílico

Alcohol, absolute

Alcohol, Dehydrated

Alcohol, denatured

ALCOHOL, DILUTED

Alcohol, ethyl

Alcohol, grain

ALCOHOL, RUBBING

Alcohols

Alcool ethylique

Alcool éthylique

Alcool etilico

Algrain

Alkohol

Alkoholu etylowego

Aminoethanol

Anhydrol

Anhydrous alcohol

Anhydrous ethanol

Äthanol

Äthylalkohol

B3324

Beta-Aminoethanol

Beta-Aminoethyl Alcohol

Beta-Ethanolamine

Beta-Hydroxyethylamine

C2H5OH

Caswell No. 426

Colamine

Cologne spirit

Cologne spirits

Dehydrated alcohol

Dehydrated ethanol

Denatured alcohol

Denatured Alcohol Cd-10

Denatured Alcohol Cd-5

Denatured Alcohol Cd-5a

Denatured Alcohol Sd-1

Denatured Alcohol Sd-13a

Denatured Alcohol Sd-17

Denatured Alcohol Sd-23a

Denatured Alcohol Sd-28

Denatured Alcohol Sd-30

Denatured Alcohol Sd-39b

Denatured Alcohol Sd-39c

Denatured Alcohol Sd-3a

Denatured Alcohol Sd-40m

Denatured ethanol

Desinfektol el

Diluted alcohol

Distilled spirits

DRINKING ALCOHOL

E1510

Envision Conditioner Pdd 9020

ETA

Etanol

Etanolo

ETHANOL

éthanol

Ethanol 200 proof

Ethanol Absolute

Ethanol Absolute Bp

Ethanol Anhydrous

Ethanol Extra Pure

Ethanol solution

Ethanol, Silent Spirit

Ethicap

Ethyl alc

Ethyl alcohol

Ethyl Alcohol & Water, 10%

Ethyl Alcohol & Water, 20%

Ethyl Alcohol & Water, 30%

Ethyl Alcohol & Water, 40%

Ethyl Alcohol & Water, 5%

Ethyl Alcohol & Water, 50%

Ethyl Alcohol & Water, 60%

Ethyl Alcohol & Water, 70%

Ethyl Alcohol & Water, 80%

Ethyl Alcohol & Water, 95%

Ethyl Alcohol & Water, 96%

Ethyl alcohol anhydrous

Ethyl alcohol in alcoholic beverages

Ethyl alcohol usp

Ethyl Alcohol, Anhydrous

Ethyl Alcohol, Denatured

Ethyl hydrate

Ethyl hydroxide

Ethylol

Ethylolamine

EtOH

FEMA NO. 2419

Fermentation alcohol

Glycinol

Grain alcohol

Hinetoless

HSDB 531

Hydroxyethane

Infinity pure

Jaysol

Jaysol S

Lux

METHYLATED MINERAL

Methylated Spirit Mineralised

Methylcarbinol

Molasses alcohol

NCI-C03134

NSC-85228

PM-6193-200

Potato alcohol

Punctilious ethyl alcohol

Pyro

Reagent Alcohol

Silent spirit

SPIRIGEL

Spirit

Spirits OF wine

Spiritus vini

Spirt

SURG

Synasol

Tecsol

Tecsol C

Thanol

Thiofaco M-50

Undenatured ethanol

USAF EK-1597

VODKA

2

Squaric acid dibutyl ester

Investigational

Early Phase 1

2892-62-8

3

Adjuvants, Immunologic

Early Phase 1

4

Anti-Infective Agents

Early Phase 1

5

Pharmaceutical Solutions

Early Phase 1

6

Anti-Infective Agents, Local

Early Phase 1

7

Immunologic Factors

Early Phase 1

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Classification and Longitudinal Follow-up of Common Melanocytic Nevi With in Vivo Reflectance Confocal Microscopy	Unknown status	NCT01194947
2	Dermoscopic Diagnosis, Histopathological Correlation, and Cellular Immortalization of Melanocytic Nevi and Primary Cutaneous Melanoma	Completed	NCT00288938
3	Total Body Dermoscopic Evaluation of Pregnancy-related Changes in Melanocytic Nevi Using the FotoFinder ATBM Master System and the Impact of Artificial Intelligence Assisted Examinations on the Patients' Skin Cancer Screening Experience: A Prospective Two-arm Controlled Observational Study	Completed	NCT05148455
4	Family Study of Melanoma in Italy	Completed	NCT00339222
5	Melanocytic-Nevi-Counts During Chemotherapy of Children With Malignancies.	Completed	NCT00600431
6	Dermoscopic Monitoring of Pediatric Melanocytic Nevi Regarding Pattern and Diameter Changes	Completed	NCT05463510
7	Genetic Basis of Melanocytic Nevi	Recruiting	NCT03054584
8	Prospective Registry of Patients With Neurocutaneous Melanocytosis (NCM) Including Cutaneous and CNS Involvement	Recruiting	NCT04548817
9	Quality of Life and Experience of Stigmatization in Children With Congenital Melanocytic Nevi Before and After Nevus Excision: a Prospective Study	Recruiting	NCT02280889
10	Neoadjuvant Squaric Acid Dibutylester Treatment of Melanocytes in Congenital Melanocytic Nevi	Not yet recruiting	NCT04999631	Early Phase 1	Squaric Acid Dibutyl Ester;Ethanol Solution

Search NIH Clinical Center for Melanoma in Congenital Melanocytic Nevus

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Genetic Tests for Melanoma in Congenital Melanocytic Nevus

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Anatomical Context for Melanoma in Congenital Melanocytic Nevus

Organs/tissues related to Melanoma in Congenital Melanocytic Nevus:

MalaCards : Skin, Lymph Node, Smooth Muscle, Endothelial, Spinal Cord, T Cells, Breast

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Publications for Melanoma in Congenital Melanocytic Nevus

Articles related to Melanoma in Congenital Melanocytic Nevus:

(show top 50) (show all 2261)

#	Title	Authors	PMID	Year
1	The correlation of TRPM1 (Melastatin) mRNA expression with microphthalmia-associated transcription factor (MITF) and other melanogenesis-related proteins in normal and pathological skin, hair follicles and melanocytic nevi. ⁵³ ⁶²	Lu S...Carlson JA	20482673	2010
2	Molecular pathogenesis of malignant melanoma: a different perspective from the studies of melanocytic nevus and acral melanoma. ⁵³ ⁶²	Takata M...Saida T	19788535	2010
3	Malignant melanoma--a genetic overview. ⁵³ ⁶²	Bloethner S...Kumar R	20096196	2009
4	Polyclonality of BRAF mutations in acquired melanocytic nevi. ⁵³ ⁶²	Lin J...Saida T	19752400	2009
5	Allelotyping, microsatellite instability, and BRAF mutation analyses in common and atypical melanocytic nevi and primary cutaneous melanomas. ⁵³ ⁶²	Uribe P...Gonzalez S	19461239	2009
6	The role of BRAF mutation and p53 inactivation during transformation of a subpopulation of primary human melanocytes. ⁵³ ⁶²	Yu H...Xu X	19389934	2009
7	Proliferation arrest in B-Raf mutant melanoma cell lines upon MAPK pathway activation. ⁵³ ⁶²	Houben R...Becker JC	18650848	2009
8	Expression of S100A6 protein in a broad spectrum of cutaneous tumors using tissue microarrays. ⁵³ ⁶²	Fullen DR...Thomas D	18201235	2008
9	G1 cell cycle regulators in congenital melanocytic nevi. Comparison with acquired nevi and melanomas. ⁵³ ⁶²	Stefanaki C...Katsambas A	18494826	2008
10	Differential gene expression in melanocytic nevi with the V600E BRAF mutation. ⁵³ ⁶²	Bloethner S...Kumar R	17696195	2007
11	Chromosomal translocations as a mechanism of BRAF activation in two cases of large congenital melanocytic nevi. ⁵³ ⁶²	Dessars B...Heimann P	17301836	2007
12	The significance of Ki-67 proliferative index and cyclin D1 expression of dysplastic nevi in the biologic spectrum of melanocytic lesions. ⁵³ ⁶²	Lebe B...Ozer E	17525627	2007
13	Congenital melanocytic nevi frequently harbor NRAS mutations but no BRAF mutations. ⁵³ ⁶²	Bauer J...Bastian BC	16888631	2007
14	BRAF and NRAS mutations in spitzoid melanocytic lesions. ⁵³ ⁶²	Fullen DR...Gruber SB	16799476	2006
15	BRAF and NRAS mutations in melanoma and melanocytic nevi. ⁵³ ⁶²	Poynter JN...Gruber SB	16845322	2006
16	Genetic alterations in melanocytic tumors. ⁵³ ⁶²	Takata M...Saida T	16750612	2006
17	Implication of MT1-MMP in the maturation steps of benign melanocytic nevi. ⁵³ ⁶²	Perez LJ...Garcia-Diez A	16420309	2006
18	Absence of mutations in the coding sequence of the potential tumor suppressor 3pK in metastatic melanoma. ⁵³ ⁶²	Houben R...Rapp UR	16367997	2005
19	Fatty acid synthase expression in cutaneous melanocytic neoplasms. ⁵³ ⁶²	Kapur P...Hoang MP	15920554	2005
20	Spitz nevi and atypical Spitz nevi/tumors: a histologic and immunohistochemical analysis. ⁵³ ⁶²	Kapur P...Hoang MP	15467715	2005
21	SPRY2 is an inhibitor of the ras/extracellular signal-regulated kinase pathway in melanocytes and melanoma cells with wild-type BRAF but not with the V599E mutant. ⁵³ ⁶²	Tsavachidou D...Weber BL	15313890	2004
22	Genetic interaction between NRAS and BRAF mutations and PTEN/MMAC1 inactivation in melanoma. ⁵³ ⁶²	Tsao H...Haluska FG	15009714	2004
23	BRAF mutations are common somatic events in melanocytic nevi. ⁵³ ⁶²	Kumar R...Hemminki K	15009715	2004
24	BRAF mutation: a frequent event in benign, atypical, and malignant melanocytic lesions of the skin. ⁵³ ⁶²	Uribe P...Gonzalez S	14501284	2003
25	Expression of translation initiation factor eIF-2alpha is increased in benign and malignant melanocytic and colonic epithelial neoplasms. ⁵³ ⁶²	Rosenwald IB...Pullman J	12942578	2003
26	BRAF oncogenic mutations correlate with progression rather than initiation of human melanoma. ⁵³ ⁶²	Dong J...Aaronson SA	12873977	2003
27	S100A6 protein expression is different in Spitz nevi and melanomas. ⁵³ ⁶²	Ribe A...McNutt NS	12748257	2003
28	MMP-2, TIMP-2 and MT1-MMP are differentially expressed in lesional skin of melanocytic nevi and their expression is modulated by UVB-light. ⁵³ ⁶²	Krengel S...Tronnier M	12139633	2002
29	Loss of p14ARF expression in melanoma. ⁵³ ⁶²	Dobrowolski R...Bosserhoff AK	11876522	2002
30	S100A6 expression in fibrohistiocytic lesions. ⁵³ ⁶²	Fullen DR...McNutt NS	11401666	2001
31	Immunohistochemical distinction of epithelioid histiocytic proliferations from epithelioid melanocytic nevi. ⁵³ ⁶²	Busam KJ...Jungbluth AA	10871066	2000
32	A comparative immunohistochemical study of MART-1 expression in Spitz nevi, ordinary melanocytic nevi, and malignant melanomas. ⁵³ ⁶²	Bergman R...Ben-Itzhak O	10688724	2000
33	A major quantitative-trait locus for mole density is linked to the familial melanoma gene CDKN2A: a maximum-likelihood combined linkage and association analysis in twins and their sibs. ⁵³ ⁶²	Zhu G...Martin NG	10417291	1999
34	Expression of catenins and p120cas in melanocytic nevi and cutaneous melanoma: deficient alpha-catenin expression is associated with melanoma progression. ⁵³ ⁶²	Zhang XD...Hersey P	10503270	1999
35	Lack of p73 mutations and late occurrence of p73 allelic deletions in melanoma tissues and cell lines. ⁵³ ⁶²	Schittek B...Garbe C	10404074	1999
36	Expression of melan-A (MART1) in benign melanocytic nevi and primary cutaneous malignant melanoma. ⁵³ ⁶²	Busam KJ...Jungbluth AA	9706977	1998
37	Prognostic significance of allelic losses in primary melanoma. ⁵³ ⁶²	Healy E...Rees JL	9619830	1998
38	Loss of expression of the p16INK4/CDKN2 gene in cutaneous malignant melanoma correlates with tumor cell proliferation and invasive stage. ⁵³ ⁶²	Talve L...Ekfors T	9221801	1997
39	Expression of nerve growth factor and epidermal growth factor receptors in neural nevi with nevic corpuscles. ⁵³ ⁶²	Argenyi ZB...Wick M	8902091	1996
40	Immunohistochemical expression of BCL-2 in melanomas and intradermal nevi. ⁵³ ⁶²	Saenz-Santamaria MC...Shea CR	7868749	1994
41	Nerve growth and expression of receptors for nerve growth factor in tumors of melanocyte origin. ⁵³ ⁶²	Brocker EB...Herlyn M	1850772	1991
42	Cutaneous glomus tumor. A comparative immunohistochemical study with pseudoangiomatous intradermal melanocytic nevi. ⁵³ ⁶²	Kaye VM...Dehner LP	1848411	1991
43	Neurofibromas and neurotized melanocytic nevi are immunohistochemically distinct neoplasms. ⁵³ ⁶²	Gray MH...Hsu A	1693815	1990
44	Immunohistochemical demonstration of factor XIIIa expression in neurofibromas. A practical means of differentiating these tumors from neurotized melanocytic nevi and schwannomas. ⁵³ ⁶²	Gray MH...Hsu A	1690969	1990
45	Transcriptomic analysis of mRNA expression in giant congenital melanocytic nevi. ⁶²	Cheng X...Dai T	36174903	2023
46	FLI-1/Melan-A dual stain is an alternative to PRAME in differentiating metastatic melanoma from nodal nevus: A monocentric retrospective study. ⁶²	Zengin HB...Smoller BR	36454046	2022
47	The long-term evolution of melanocytic nevi among high-risk adults. ⁶²	Reiter O...Rotemberg V	35881111	2022
48	SCALP syndrome with a germline heterozygous DOCK6 mutation and somatic mosaic NRAS Q61R mutation. ⁶²	Meyer SN...Kiuru M	36456540	2022
49	Analyzing the Spatial Randomness in the Distribution of Acquired Melanocytic Neoplasms. ⁶²	Chousakos E...Marghoob AA	35841946	2022
50	Congenital Melanocytic Nevi Syndrome With Leptomeningeal Melanoma. ⁶²	Mohite A...Rangarajan V	35867990	2022

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Genes for Melanoma in Congenital Melanocytic Nevus

Genes related to Melanoma in Congenital Melanocytic Nevus (0 elite genes):

(show all 30)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	MLANA	Melan-A	Protein Coding	16.32	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	10871066 10688724 9706977
2	NRAS	NRAS Proto-Oncogene, GTPase	Protein Coding	15.2	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	16845322 15009714
3	BRAF	B-Raf Proto-Oncogene, Serine/Threonine Kinase	Protein Coding	14.91	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	15009715 19752400 17301836 (more) 14501284 16888631 15313890 16750612 19389934 16845322 19788535 15009714 20096196 19461239 19536147 17696195 18650848 12873977 16799476
4	MITF	Melanocyte Inducing Transcription Factor	Protein Coding	13.84	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	20482673
5	PMEL	Premelanosome Protein	Protein Coding	13.52	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	10871066
6	CDKN2A	Cyclin Dependent Kinase Inhibitor 2A	Protein Coding	13.42	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	15009715 10417291 9221801 (more) 20096196 18494826 11876522
7	TYR	Tyrosinase	Protein Coding	12.94	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	10871066 8857669
8	S100B	S100 Calcium Binding Protein B	Protein Coding	12.4	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	1693815 1804988 12748257
9	S100A6	S100 Calcium Binding Protein A6	Protein Coding	10.91	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	12748257 11401666 18201235
10	HPS1	HPS1 Biogenesis Of Lysosomal Organelles Complex 3 Subunit 1	Protein Coding	9.71	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	15982315
11	NGFR	Nerve Growth Factor Receptor	Protein Coding	8.25	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	1850772 8902091
12	KDM4C	Lysine Demethylase 4C	Protein Coding	8.23	DISEASES inferred ¹⁴ ¹⁴
13	RAF1	Raf-1 Proto-Oncogene, Serine/Threonine Kinase	Protein Coding	7.58	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	16367997
14	H2AC18	H2A Clustered Histone 18	Protein Coding	7.34	DISEASES inferred ¹⁴ ¹⁴
15	S100A1	S100 Calcium Binding Protein A1	Protein Coding	7.34	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	1848411
16	MC1R	Melanocortin 1 Receptor	Protein Coding	7.21	DISEASES inferred ¹⁴
17	MIR199A1	MicroRNA 199a-1	RNA Gene	7.09	DISEASES inferred ¹⁴ ¹⁴
18	HRAS	HRas Proto-Oncogene, GTPase	Protein Coding	7.05	DISEASES inferred ¹⁴
19	MMP14	Matrix Metallopeptidase 14	Protein Coding	6.85	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	12139633 16420309
20	MIR21	MicroRNA 21	RNA Gene	6.74	DISEASES inferred ¹⁴ ¹⁴
21	MKI67	Marker Of Proliferation Ki-67	Protein Coding	6.36	Novoseek inferred ⁵³	9619830 17525627 7868749
22	SOX10	SRY-Box Transcription Factor 10	Protein Coding	6.2	DISEASES inferred ¹⁴
23	GNAQ	G Protein Subunit Alpha Q	Protein Coding	6.16	DISEASES inferred ¹⁴
24	KIT	KIT Proto-Oncogene, Receptor Tyrosine Kinase	Protein Coding	6.1	DISEASES inferred ¹⁴
25	TP53	Tumor Protein P53	Protein Coding	6.07	DISEASES inferred ¹⁴
26	MIR509-1	MicroRNA 509-1	RNA Gene	6.02	DISEASES inferred ¹⁴ ¹⁴
27	PTEN	Phosphatase And Tensin Homolog	Protein Coding	6.01	DISEASES inferred ¹⁴
28	CDK4	Cyclin Dependent Kinase 4	Protein Coding	6	DISEASES inferred ¹⁴
29	MIR29C	MicroRNA 29c	RNA Gene	6	DISEASES inferred ¹⁴ ¹⁴
30	EIF2S1	Eukaryotic Translation Initiation Factor 2 Subunit Alpha	Protein Coding	5.96	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	12942578

Sources

Variations for Melanoma in Congenital Melanocytic Nevus

Sources

Expression for Melanoma in Congenital Melanocytic Nevus

Search GEO for disease gene expression data for Melanoma in Congenital Melanocytic Nevus.

Sources

Pathways for Melanoma in Congenital Melanocytic Nevus

Pathways related to Melanoma in Congenital Melanocytic Nevus according to GeneCards Suite gene sharing:

(show all 35)

#	Super pathways	Score	Top Affiliating Genes
1	Signal Transduction ⁶⁶	13.71	S100B RAF1 NRAS NGFR MC1R KDM4C
2	Beta-Adrenergic Signaling ⁶⁴ Show member pathways CDK5 Pathway ⁶⁴ Erythropoietin Pathway ⁶⁴ Insulin Pathway ⁷⁰ Insulin Receptor Pathway ⁶⁴	12.82	RAF1 NRAS NGFR HRAS BRAF
3	MAPK-Erk Pathway ⁶⁷ Show member pathways Actin Dynamics Signaling Pathway ⁶⁷ G Protein-coupled Receptors Signaling ⁶⁷	12.66	RAF1 NRAS MITF HRAS BRAF
4	Malignant pleural mesothelioma ⁷⁴	12.59	RAF1 NGFR MMP14 HRAS CDKN2A
5	CNTF Signaling ⁶⁴ Show member pathways Activation of the AP-1 family of transcription factors ⁶⁶ FLT3 Signaling ⁶⁴ G-protein signaling Ras family GTPases in kinase cascades (scheme) ²² Host-pathogen interaction of human coronaviruses - MAPK signaling ⁷⁴ IL-3 Pathway ⁶⁴ Immune response Oncostatin M signaling via MAPK in human cells ²² Inhibition of exosome biogenesis and secretion by Manumycin A in CRPC cells ⁷⁴ MAPK cascade ⁷⁴ Nur77-Induced AICD in Macrophage ⁶⁴ OSM Pathway ⁶⁴	12.58	RAF1 NRAS MITF HRAS BRAF
6	Endometrial cancer ⁷⁴ Show member pathways Chromosomal and microsatellite instability in colorectal cancer ⁷⁴ Melanoma ⁷⁴ Non-small cell lung cancer ⁷⁴ Pancreatic adenocarcinoma pathway ⁷⁴ Signal transduction PTEN pathway ²²	12.55	RAF1 NRAS MITF HRAS CDKN2A BRAF
7	G-Beta Gamma Signaling ⁶⁴ Show member pathways CRHR Pathway ⁶⁴ GHRH Signaling ⁶⁴	12.54	RAF1 NRAS HRAS CDKN2A BRAF
8	Development EGFR signaling pathway ²² Show member pathways Development ERBB-family signaling ²² EGF Pathway ⁶⁴ EGFR Signaling Pathway ⁶⁷ ErbB receptor signaling network ⁶¹	12.42	BRAF HRAS NRAS RAF1
9	Hepatocyte growth factor receptor signaling ⁷⁴ Show member pathways Apoptosis and survival Anti-apoptotic action of membrane-bound ESR1 ²² Apoptosis and survival NGF signaling pathway ²² Apoptosis and survival Role of CDK5 in neuronal death and survival ²² Development HGF signaling pathway ²² Development Neurotrophin family signaling ²² Drug-mediated inhibition of MET activation ⁶⁶ MET activates PTPN11 ⁶⁶ MET activates STAT3 ⁶⁶ PLC-gamma1 signalling ⁶⁶ Trk receptor signaling mediated by PI3K and PLC-gamma ⁶¹ TRKA activation by NGF ⁶⁶	12.39	RAF1 NGFR HRAS BRAF
10	Breast cancer pathway ⁷⁴ Show member pathways Embryonic stem cell pluripotency pathways ⁷⁴	12.38	RAF1 NRAS HRAS BRAF
11	MAPK signaling pathway ⁷⁴	12.33	RAF1 NRAS HRAS BRAF
12	Integrin-mediated cell adhesion ⁷⁴ Show member pathways HGF Pathway ⁶⁴	12.16	RAF1 NRAS HRAS BRAF
13	MAPK Signaling: Mitogens ⁶⁵ Show member pathways Akt Signaling Pathway ⁶⁵	12.15	RAF1 NRAS HRAS BRAF
14	Ras signaling ⁷⁴	12.13	HRAS NGFR NRAS RAF1
15	Oncogenic MAPK signaling ⁶⁶ Show member pathways Signaling by BRAF and RAF1 fusions ⁶⁶	12.03	RAF1 NRAS HRAS BRAF
16	CCR3 Pathway in Eosinophils ⁶⁴ Show member pathways VEGF and S-1P Signaling ⁶⁴	12	RAF1 NRAS HRAS BRAF
17	NGF Pathway ⁶⁴ Show member pathways MAPK and NFkB signaling pathways inhibited by Yersinia YopJ ⁷⁴ TRKA Signaling ⁶⁴	11.97	RAF1 NRAS NGFR HRAS BRAF
18	MAP Kinase Signaling ³	11.85	RAF1 NRAS HRAS BRAF
19	Head and neck squamous cell carcinoma ⁷⁴	11.67	NRAS HRAS CDKN2A
20	VEGF Pathway (Tocris) ⁷⁰ Show member pathways Sorafenib Pharmacodynamics ⁶⁰	11.63	BRAF HRAS NRAS RAF1
21	BDNF-TrkB signaling ⁷⁴ Show member pathways Synaptic signaling pathways associated with autism spectrum disorder ⁷⁴	11.57	NRAS HRAS BRAF
22	Senescence and autophagy in cancer ⁷⁴	11.57	RAF1 MMP14 HRAS CDKN2A BRAF
23	Thyroid stimulating hormone (TSH) signaling pathway ⁷⁴	11.54	RAF1 HRAS BRAF
24	Regulation of retinoblastoma protein ⁶¹	11.52	RAF1 MITF CDKN2A
25	Serotonin HTR1 group and FOS pathway ⁷⁴ Show member pathways Serotonin receptor 2 and ELK-SRF/GATA4 signaling ⁷⁴ Serotonin receptor 4/6/7 and NR3C signaling ⁷⁴	11.49	RAF1 NRAS HRAS BRAF
26	Kisspeptin/kisspeptin receptor system in the ovary ⁷⁴	11.28	RAF1 NRAS HRAS
27	Vemurafenib Pathway, Pharmacodynamics ⁶⁰	11.26	RAF1 NRAS HRAS BRAF
28	Aryl hydrocarbon receptor pathway ⁷⁴	11.16	RAF1 NRAS HRAS
29	Crizotinib Pathway, Pharmacokinetics/Pharmacodynamics ⁶⁰	11.14	RAF1 NRAS HRAS BRAF
30	CD209 (DC-SIGN) signaling ⁶⁶	10.98	RAF1 NRAS HRAS
31	Bladder cancer ⁷⁴	10.96	RAF1 NRAS HRAS CDKN2A BRAF
32	TNF-alpha signaling pathway ⁷⁴ Show member pathways RAS GTPase cycle mutants ⁶⁶ Signaling by RAS GAP mutants ⁶⁶ Signaling by RAS GTPase mutants ⁶⁶	10.74	NRAS HRAS
33	MAPK pathway in congenital thyroid cancer ⁷⁴	10.69	RAF1 BRAF
34	Regorafenib Pathway, Pharmacodynamics ⁶⁰	10.53	RAF1 BRAF
35	GPR143 in melanocytes and retinal pigment epithelium cells ⁷⁴	10.47	TYR PMEL MLANA MITF MC1R

Sources

GO Terms for Melanoma in Congenital Melanocytic Nevus

Cellular components related to Melanoma in Congenital Melanocytic Nevus according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	melanosome	GO:0042470	9.23	TYR PMEL MMP14 MLANA

Biological processes related to Melanoma in Congenital Melanocytic Nevus according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	MAPK cascade	GO:0000165	9.76	RAF1 NRAS HRAS BRAF
2	thymus development	GO:0048538	9.73	TYR RAF1 BRAF
3	pigmentation	GO:0043473	9.35	TYR MITF MC1R
4	melanin biosynthetic process	GO:0042438	9.1	TYR PMEL MC1R

Molecular functions related to Melanoma in Congenital Melanocytic Nevus according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	S100 protein binding	GO:0044548	9.1	S100B S100A6 S100A1

Sources

Sources for Melanoma in Congenital Melanocytic Nevus

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: MLN079 MIFTS: 43	Melanoma in Congenital Melanocytic Nevus Categories: Cancer diseases, Skin diseases	Data Licensing For inquiries, contact: [email protected]
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