MCID: EPT001
MIFTS: 34

Epithelioid Cell Melanoma

Categories: Cancer diseases, Skin diseases

Aliases & Classifications for Epithelioid Cell Melanoma

MalaCards integrated aliases for Epithelioid Cell Melanoma:

Name: Epithelioid Cell Melanoma 12 15 74
Epithelioid Melanoma 12

Classifications:



External Ids:

Disease Ontology 12 DOID:4360
NCIt 51 C4236
SNOMED-CT 69 37138001
UMLS 74 C0334443

Summaries for Epithelioid Cell Melanoma

MalaCards based summary : Epithelioid Cell Melanoma, also known as epithelioid melanoma, is related to choroid epithelioid cell melanoma and ciliary body epithelioid cell melanoma. An important gene associated with Epithelioid Cell Melanoma is MITF (Melanocyte Inducing Transcription Factor), and among its related pathways/superpathways are Glioma and Myometrial Relaxation and Contraction Pathways. Affiliated tissues include skin, kidney and breast, and related phenotypes are homeostasis/metabolism and growth/size/body region

Related Diseases for Epithelioid Cell Melanoma

Diseases related to Epithelioid Cell Melanoma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 56)
# Related Disease Score Top Affiliating Genes
1 choroid epithelioid cell melanoma 12.4
2 ciliary body epithelioid cell melanoma 12.3
3 uveal epithelioid cell melanoma 12.3
4 albinism, ocular, with late-onset sensorineural deafness 10.4 MITF TYR
5 albinism, ocular, with sensorineural deafness 10.4 MITF TYR
6 hypomelanosis of ito 10.4 MITF TYR
7 phakomatosis cesioflammea 10.4 GNA11 GNAQ
8 malignant spindle cell melanoma 10.3 MITF TYR
9 vitiligo-associated multiple autoimmune disease susceptibility 6 10.3 MITF TYR
10 malignant conjunctival melanoma 10.3 GNA11 GNAQ
11 conjunctival cancer 10.3 GNA11 GNAQ
12 pseudopseudohypoparathyroidism 10.3 GNA11 PRKAR1A
13 tietz albinism-deafness syndrome 10.3 MITF TYR
14 cutaneous ganglioneuroma 10.3 ENO2 MITF
15 dowling-degos disease 1 10.3 MITF RBP1 TYR
16 mongolian spot 10.3 ENO2 GNAQ
17 mucosal melanoma 10.2 GNA11 GNAQ MITF
18 male reproductive organ benign neoplasm 10.2 PRKAR1A WT1
19 meningeal melanoma 10.2 CDKN2A MITF
20 malignant leptomeningeal tumor 10.2 CDKN2A MITF
21 melanocytic nevus syndrome, congenital 10.2 PRKAR1A TYR
22 kidney rhabdoid cancer 10.2 ENO2 WT1
23 rhabdoid cancer 10.1 ENO2 WT1
24 cauda equina neoplasm 10.1 ENO2 WT1
25 fallopian tube squamous cell carcinoma 10.1 CDKN2A WT1
26 bartholin's gland benign neoplasm 10.1 CDKN2A ERBB3
27 gallbladder melanoma 10.1 MITF MLANA
28 lentigo maligna melanoma 10.1 MITF MLANA
29 desmoplastic small round cell tumor 10.1 ENO2 WT1
30 halo nevi 10.1 MLANA TYR
31 bartholin's gland disease 10.0 CDKN2A ERBB3
32 kidney clear cell sarcoma 10.0 ENO2 WT1
33 melanoacanthoma 10.0 MLANA TYR
34 sertoli cell tumor 10.0 PRKAR1A WT1
35 diffuse meningeal melanocytosis 10.0 MLANA TYR
36 ocular cancer 10.0 CDKN2A GNA11 GNAQ
37 sarcomatoid mesothelioma 10.0 CDKN2A WT1
38 carcinoid tumors, intestinal 10.0 ENO2 NOTCH1
39 bone squamous cell carcinoma 10.0 CDKN2A NOTCH1
40 pigmented basal cell carcinoma 9.9 MITF MLANA TYR
41 breast angiosarcoma 9.9 MITF MLANA TYR
42 skin melanoma 9.9 CDKN2A MCAM MITF TYR
43 melanoma 9.9
44 breast giant fibroadenoma 9.9 CDKN2A WT1
45 melanoma, cutaneous malignant 1 9.9 CDKN2A GNA11 GNAQ MITF
46 clear cell sarcoma 9.9 ENO2 ERBB3 MITF WT1
47 transitional cell carcinoma 9.8 CDKN2A ENO2 ERBB3
48 infiltrating angiolipoma 9.8 CDKN2A MLANA
49 spindle cell liposarcoma 9.8 MLANA WT1
50 melanomatosis 9.8 CDKN2A GNA11 GNAQ WT1

Graphical network of the top 20 diseases related to Epithelioid Cell Melanoma:



Diseases related to Epithelioid Cell Melanoma

Symptoms & Phenotypes for Epithelioid Cell Melanoma

MGI Mouse Phenotypes related to Epithelioid Cell Melanoma:

47 (show all 21)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.36 CDKN2A CTSK ERBB3 GNA11 GNAQ LGALS3BP
2 growth/size/body region MP:0005378 10.33 CDKN2A CTSK ENO2 ERBB3 GNA11 GNAQ
3 immune system MP:0005387 10.31 CDKN2A CTSK ERBB3 GNA11 GNAQ LGALS3BP
4 endocrine/exocrine gland MP:0005379 10.3 CDKN2A CTSK ERBB3 GNA11 GNAQ MITF
5 cardiovascular system MP:0005385 10.29 CDKN2A ERBB3 GNA11 GNAQ MCAM NOTCH1
6 cellular MP:0005384 10.28 CDKN2A CTSK ENO2 ERBB3 MITF NOTCH1
7 behavior/neurological MP:0005386 10.25 CDKN2A ENO2 ERBB3 GNA11 GNAQ MCAM
8 hematopoietic system MP:0005397 10.22 CDKN2A CTSK GNA11 GNAQ MCAM MITF
9 craniofacial MP:0005382 10.18 CTSK ENO2 GNA11 GNAQ MITF NOTCH1
10 integument MP:0010771 10.18 CDKN2A ERBB3 GNA11 GNAQ MITF MLANA
11 embryo MP:0005380 10.11 CDKN2A ERBB3 MITF NOTCH1 PRKAR1A TYR
12 nervous system MP:0003631 10.11 CDKN2A CTSK ENO2 ERBB3 GNA11 GNAQ
13 muscle MP:0005369 10.03 CDKN2A ERBB3 GNA11 GNAQ NOTCH1 PRKAR1A
14 hearing/vestibular/ear MP:0005377 10.01 GNA11 GNAQ MITF NOTCH1 RBP1 TYR
15 neoplasm MP:0002006 9.95 CDKN2A ERBB3 NOTCH1 PRKAR1A PRKCA TYR
16 liver/biliary system MP:0005370 9.93 CDKN2A GNA11 NOTCH1 PRKAR1A RBP1 WT1
17 normal MP:0002873 9.86 ERBB3 GNA11 GNAQ MITF NOTCH1 PRKAR1A
18 pigmentation MP:0001186 9.85 CDKN2A ERBB3 GNA11 GNAQ MITF MLANA
19 no phenotypic analysis MP:0003012 9.8 CDKN2A MCAM MITF MLANA TYR WT1
20 respiratory system MP:0005388 9.61 CDKN2A CTSK ENO2 ERBB3 GNA11 GNAQ
21 skeleton MP:0005390 9.23 CDKN2A CTSK GNA11 GNAQ MITF NOTCH1

Drugs & Therapeutics for Epithelioid Cell Melanoma

Search Clinical Trials , NIH Clinical Center for Epithelioid Cell Melanoma

Genetic Tests for Epithelioid Cell Melanoma

Anatomical Context for Epithelioid Cell Melanoma

MalaCards organs/tissues related to Epithelioid Cell Melanoma:

42
Skin, Kidney, Breast, Bone, Heart

Publications for Epithelioid Cell Melanoma

Articles related to Epithelioid Cell Melanoma:

# Title Authors Year
1
Distant metastasis due to heavily pigmented epithelioid melanoma with underlying BRAF V600E, NOTCH1, ERBB3, and PTEN mutations. ( 31025390 )
2019
2
Heavily Pigmented Epithelioid Melanoma With Loss of Protein Kinase A Regulatory Subunit-α Expression. ( 29771690 )
2018
3
Epithelioid melanoma of the rectum: reappraisal of a deceptive microscopic simulator. ( 20952303 )
2011
4
Proton-beam irradiated epithelioid cell melanoma of the ciliary body. ( 6275325 )
1981

Variations for Epithelioid Cell Melanoma

Expression for Epithelioid Cell Melanoma

Search GEO for disease gene expression data for Epithelioid Cell Melanoma.

Pathways for Epithelioid Cell Melanoma

Pathways related to Epithelioid Cell Melanoma according to GeneCards Suite gene sharing:

(show all 26)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.4 CDKN2A ERBB3 MITF NOTCH1 PRKCA
2
Show member pathways
12.36 GNA11 GNAQ PRKAR1A PRKCA
3 12.32 CDKN2A ERBB3 NOTCH1 PRKCA
4
Show member pathways
12.12 GNA11 GNAQ PRKAR1A PRKCA
5 12.09 ENO2 GNA11 GNAQ NOTCH1 PRKAR1A
6
Show member pathways
12.06 GNA11 GNAQ PRKAR1A PRKCA
7 11.92 MITF NOTCH1 WT1
8
Show member pathways
11.91 ERBB3 GNA11 GNAQ PRKCA
9
Show member pathways
11.9 GNA11 GNAQ PRKCA
10
Show member pathways
11.87 GNA11 GNAQ PRKAR1A
11
Show member pathways
11.86 GNA11 GNAQ PRKCA
12 11.82 CDKN2A GNA11 GNAQ MITF NOTCH1 PRKCA
13 11.78 GNA11 GNAQ PRKCA
14 11.73 GNA11 PRKCA RBP1
15 11.69 GNA11 GNAQ PRKCA
16 11.67 GNA11 GNAQ PRKCA
17 11.62 GNA11 GNAQ PRKCA
18 11.55 ERBB3 GNA11 GNAQ PRKAR1A
19 11.41 GNA11 GNAQ PRKCA
20 11.36 GNA11 GNAQ PRKAR1A PRKCA
21 11.32 GNA11 GNAQ PRKCA
22 11.16 ERBB3 GNA11 PRKAR1A PRKCA
23 11.13 GNA11 PRKCA RBP1
24 11.1 GNA11 GNAQ PRKCA
25 11.03 PRKCA RBP1
26 11.02 GNA11 GNAQ PRKAR1A

GO Terms for Epithelioid Cell Melanoma

Cellular components related to Epithelioid Cell Melanoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.36 CDKN2A CTSK ENO2 GNA11 GNAQ NOTCH1

Biological processes related to Epithelioid Cell Melanoma according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 platelet activation GO:0030168 9.65 GNA11 GNAQ PRKCA
2 negative regulation of protein kinase activity GO:0006469 9.5 CDKN2A GNAQ PRKAR1A
3 action potential GO:0001508 9.49 GNA11 GNAQ
4 G protein-coupled acetylcholine receptor signaling pathway GO:0007213 9.46 GNA11 GNAQ
5 cardiac muscle cell proliferation GO:0060038 9.43 NOTCH1 PRKAR1A
6 endocardial cushion development GO:0003197 9.4 ERBB3 NOTCH1
7 somatic stem cell division GO:0048103 9.37 CDKN2A NOTCH1
8 positive regulation of gene expression GO:0010628 9.35 CDKN2A ERBB3 MITF NOTCH1 WT1
9 phototransduction, visible light GO:0007603 9.26 GNA11 GNAQ
10 entrainment of circadian clock GO:0009649 9.16 GNA11 GNAQ
11 heart development GO:0007507 9.02 ERBB3 GNA11 NOTCH1 PRKAR1A WT1

Molecular functions related to Epithelioid Cell Melanoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 G-protein beta/gamma-subunit complex binding GO:0031683 9.16 GNA11 GNAQ
2 guanyl nucleotide binding GO:0019001 8.96 GNA11 GNAQ
3 type 2A serotonin receptor binding GO:0031826 8.62 GNA11 GNAQ

Sources for Epithelioid Cell Melanoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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