MCID: MLN077
MIFTS: 18

Melanoma, Cutaneous Malignant 9

Categories: Genetic diseases, Skin diseases, Rare diseases, Eye diseases, Cancer diseases, Nephrological diseases

Aliases & Classifications for Melanoma, Cutaneous Malignant 9

MalaCards integrated aliases for Melanoma, Cutaneous Malignant 9:

Name: Melanoma, Cutaneous Malignant 9 57 75
Cutaneous Malignant Melanoma 9 75 29 6
Melanoma, Cutaneous Malignant, 9 57 13
Cmm9 57 75
Melanoma, Cutaneous, Malignant, Susceptibility to, Type 9 40
Melanoma, Cutaneous Malignant, Susceptibility to, 9 57

Characteristics:

HPO:

32
melanoma, cutaneous malignant 9:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 615134
MeSH 44 D008545
SNOMED-CT via HPO 69 263681008 2092003 372244006

Summaries for Melanoma, Cutaneous Malignant 9

OMIM : 57 Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by Habif, 2010). For a discussion of genetic heterogeneity of malignant melanoma, see 155600. (615134)

MalaCards based summary : Melanoma, Cutaneous Malignant 9, is also known as cutaneous malignant melanoma 9. An important gene associated with Melanoma, Cutaneous Malignant 9 is TERT (Telomerase Reverse Transcriptase). Affiliated tissues include skin and eye, and related phenotype is melanoma.

UniProtKB/Swiss-Prot : 75 Melanoma, cutaneous malignant 9: A malignant neoplasm of melanocytes, arising de novo or from a pre- existing benign nevus, which occurs most often in the skin but also may involve other sites.

Related Diseases for Melanoma, Cutaneous Malignant 9

Symptoms & Phenotypes for Melanoma, Cutaneous Malignant 9

Clinical features from OMIM:

615134

Human phenotypes related to Melanoma, Cutaneous Malignant 9:

32
# Description HPO Frequency HPO Source Accession
1 melanoma 32 HP:0002861

Drugs & Therapeutics for Melanoma, Cutaneous Malignant 9

Search Clinical Trials , NIH Clinical Center for Melanoma, Cutaneous Malignant 9

Genetic Tests for Melanoma, Cutaneous Malignant 9

Genetic tests related to Melanoma, Cutaneous Malignant 9:

# Genetic test Affiliating Genes
1 Cutaneous Malignant Melanoma 9 29 TERT

Anatomical Context for Melanoma, Cutaneous Malignant 9

MalaCards organs/tissues related to Melanoma, Cutaneous Malignant 9:

41
Skin, Eye

Publications for Melanoma, Cutaneous Malignant 9

Variations for Melanoma, Cutaneous Malignant 9

ClinVar genetic disease variations for Melanoma, Cutaneous Malignant 9:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TERT TERT, -57, T-G single nucleotide variant risk factor

Cosmic variations for Melanoma, Cutaneous Malignant 9:

9
(show all 14)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM580 NRAS skin,ear,malignant melanoma,NS c.181C>A p.Q61K 1:114713909-114713909 5
2 COSM5049807 NF1 skin,ear,malignant melanoma,NS c.3097C>T p.Q1033* 17:31230366-31230366 5
3 COSM5049808 NF1 skin,ear,malignant melanoma,NS c.3652C>T p.Q1218* 17:31233157-31233157 5
4 COSM1651647 KIT skin,eye,malignant melanoma,NS c.1459G>A p.G487S 4:54725969-54725969 5
5 COSM110485 GRIN2A skin,ear,malignant melanoma,NS c.3217G>A p.E1073K 16:9764327-9764327 5
6 COSM109660 GRIN2A skin,ear,malignant melanoma,NS c.4097C>T p.P1366L 16:9763447-9763447 5
7 COSM106626 GRIN2A skin,ear,malignant melanoma,NS c.1959G>A p.M653I 16:9829471-9829471 5
8 COSM141892 CNR1 skin,ear,malignant melanoma,NS c.145C>T p.P49S 6:88145130-88145130 5
9 COSM141856 CHRM3 skin,ear,malignant melanoma,NS c.1741T>A p.F581I 1:239909192-239909192 5
10 COSM471 BRAF skin,ear,malignant melanoma,NS c.1790T>G p.L597R 7:140753345-140753345 5
11 COSM27639 BRAF skin,ear,malignant melanoma,NS c.1780G>A p.D594N 7:140753355-140753355 5
12 COSM476 BRAF skin,ear,malignant melanoma,NS c.1799T>A p.V600E 7:140753336-140753336 5
13 COSM1125 BRAF skin,ear,malignant melanoma,NS c.1790T>A p.L597Q 7:140753345-140753345 5
14 COSM478 BRAF skin,ear,malignant melanoma,NS c.1801A>G p.K601E 7:140753334-140753334 5

Expression for Melanoma, Cutaneous Malignant 9

Search GEO for disease gene expression data for Melanoma, Cutaneous Malignant 9.

Pathways for Melanoma, Cutaneous Malignant 9

GO Terms for Melanoma, Cutaneous Malignant 9

Sources for Melanoma, Cutaneous Malignant 9

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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