Details of Disease

General Information of Disease (ID: DIS9SG3R)

Disease Name Schwannomatosis 2
Synonyms SCHWANNOMATOSIS 2; schwannomatosis-2, susceptibility to; SWNTS2; schwannomatosis 2; Schwannomatosis type 2
Disease Hierarchy
DISDWAM1: Schwannomatosis
DIS9SG3R: Schwannomatosis 2
Disease Identifiers
MONDO ID
MONDO_0014299
UMLS CUI
C3810283
OMIM ID
615670
MedGen ID
816613

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
LZTR1 OTIDM6XO Definitive 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.