Details of Disease

General Information of Disease (ID: DISMB41N)

Disease Name Tumor predisposition syndrome 3
Synonyms
melanoma, cutaneous malignant, susceptibility to, 10; malignant glioma caused by mutation in POT1; glioma susceptibility 9; melanoma, cutaneous malignant, susceptibility to, type 10; susceptibility to cutaneous malignant melanoma 10; glioma susceptibility type 9; CMM10; GLM9
Disease Hierarchy
DISOI5X8: Susceptibility to familial cutaneous melanoma
DISMB41N: Tumor predisposition syndrome 3
Disease Identifiers
MONDO ID
MONDO_0014368
UMLS CUI
C4014476
OMIM ID
615848
MedGen ID
862913

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
POT1 OTNBXJCQ Moderate 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.