Details of Disease

General Information of Disease (ID: DIST1QCK)

Disease Name Melanoma, cutaneous malignant, susceptibility to, 3
Synonyms CMM3; susceptibility to cutaneous malignant melanoma 3; melanoma, cutaneous malignant, susceptibility to, type 3; melanoma, cutaneous malignant, 3; melanoma, cutaneous malignant, susceptibility to, 3
Disease Hierarchy
DISOI5X8: Susceptibility to familial cutaneous melanoma
DIS98MYE: Inherited disease susceptibility
DIST1QCK: Melanoma, cutaneous malignant, susceptibility to, 3
Disease Identifiers
MONDO ID
MONDO_0012183
UMLS CUI
C1836892
OMIM ID
609048
MedGen ID
373202

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
CDK4 TT0PG8F Definitive Autosomal dominant [1]
CDK4 TT0PG8F Definitive Biomarker [2]
------------------------------------------------------------------------------------
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CDK4 OT7EP05T Definitive Autosomal dominant [1]
------------------------------------------------------------------------------------

References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
2 The interplay of CDK4 and CDK6 in melanoma.Oncotarget. 2019 Feb 15;10(14):1346-1359. doi: 10.18632/oncotarget.26515. eCollection 2019 Feb 15.