Details of Disease

General Information of Disease (ID: DISJVXNY)

Disease Name Melanoma, cutaneous malignant, susceptibility to, 9
Synonyms CMM9; susceptibility to cutaneous malignant melanoma 9; melanoma, cutaneous malignant, susceptibility to, 9; melanoma, cutaneous malignant, susceptibility to, type 9; melanoma, cutaneous malignant, 9
Disease Hierarchy
DISOI5X8: Susceptibility to familial cutaneous melanoma
DISGLS6H: Glioma susceptibility
DIS98MYE: Inherited disease susceptibility
DISJVXNY: Melanoma, cutaneous malignant, susceptibility to, 9
Disease Identifiers
MONDO ID
MONDO_0014056
UMLS CUI
C3554574
OMIM ID
615134
MedGen ID
767488

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
TERT TTQY2EJ Limited Autosomal dominant [1]
TERT TTQY2EJ Strong Biomarker [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
TERT OT085VVA Limited Autosomal dominant [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
2 Complex inheritance pattern of dyskeratosis congenita in two families with 2 different mutations in the telomerase reverse transcriptase gene.Blood. 2008 Feb 1;111(3):1128-30. doi: 10.1182/blood-2007-10-120907. Epub 2007 Nov 27.