Details of Disease

General Information of Disease (ID: DISBZ12R)

• Disease Name: Mucosal melanoma
• Synonyms: mucosal melanoma
• Definition: A melanoma that arises from a mucosal site.
• Disease Hierarchy:
  DIS1RRCY: Melanoma
  DIS1MFIY: Non-cutaneous melanoma
  DISBZ12R: Mucosal melanoma
• Disease Identifiers:
  MONDO ID: MONDO_0000544
  UMLS CUI: C3898222
  MedGen ID: 857816

Drug-Interaction Atlas (DIA) of This Disease

This Disease is Treated as An Indication in 2 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Everolimus	DM8X2EH	Approved	Small molecular drug	[1]
Sirolimus	DMGW1ID	Approved	Small molecular drug	[2]

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 5 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ADCY1	TTV1ZSQ	Strong	Biomarker	[3]
GNA11	TTSRXJW	Strong	Genetic Variation	[4]
GNAQ	TTL1SRG	Strong	Genetic Variation	[4]
MAGEC2	TTKGUEB	Strong	Altered Expression	[5]
SF3B1	TTL2WUI	Strong	Genetic Variation	[6]

References

• [1] Everolimus FDA Label
• [2] Sirolimus FDA Label
• [3] MicroRNA-23a-3p Inhibits Mucosal Melanoma Growth and Progression through Targeting Adenylate Cyclase 1 and Attenuating cAMP and MAPK Pathways.Theranostics. 2019 Jan 25;9(4):945-960. doi: 10.7150/thno.30516. eCollection 2019.
• [4] GNAQ and GNA11 mutations occur in 9.5% of mucosal melanoma and are associated with poor prognosis.Eur J Cancer. 2016 Sep;65:156-63. doi: 10.1016/j.ejca.2016.06.019. Epub 2016 Aug 4.
• [5] Erratum to "Intratumoral Heterogeneity of MAGE-C1/CT7 and MAGE-C2/CT10 Expression in Mucosal Melanoma".Biomed Res Int. 2019 Jul 22;2019:5256364. doi: 10.1155/2019/5256364. eCollection 2019.
• [6] Recurrent hotspot SF3B1 mutations at codon 625 in vulvovaginal mucosal melanoma identified in a study of 27 Australian mucosal melanomas.Oncotarget. 2019 Jan 29;10(9):930-941. doi: 10.18632/oncotarget.26584. eCollection 2019 Jan 29.