Details of Disease

General Information of Disease (ID: DISD5L1R)

Disease Name Glioma susceptibility 1
Synonyms
glioma of brain, familial; astrocytoma; oligodendroglioma; subependymoma; glioblastoma multiforme; ependymoma; glioblastoma, somatic; glioma, susceptibility to, somatic; glioma susceptibility 1; GLM1; glioma susceptibility 1, autosomal dominant, somatic mutation
Disease Hierarchy
DISGLS6H: Glioma susceptibility
DISD5L1R: Glioma susceptibility 1
Disease Identifiers
MONDO ID
MONDO_0024498
UMLS CUI
C2750850
OMIM ID
137800
MedGen ID
413414

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
ERBB2 TT6EO5L Limited Unknown [1]
ERBB2 TTR5TV4 Disputed Genetic Variation [2]
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This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ERBB2 OTOAUNCK Limited Unknown [1]
H3C1 OTGBGOZW Strong Genetic Variation [3]
IDH2 OTTQA4PB Strong Genetic Variation [4]
LZTR1 OTIDM6XO Strong Genetic Variation [5]
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References

1 Novel germline mutation in the transmembrane domain of HER2 in familial lung adenocarcinomas. J Natl Cancer Inst. 2014 Jan;106(1):djt338. doi: 10.1093/jnci/djt338. Epub 2013 Dec 7.
2 Lung cancer: intragenic ERBB2 kinase mutations in tumours.Nature. 2004 Sep 30;431(7008):525-6. doi: 10.1038/431525b.
3 Somatic histone H3 alterations in pediatric diffuse intrinsic pontine gliomas and non-brainstem glioblastomas.Nat Genet. 2012 Jan 29;44(3):251-3. doi: 10.1038/ng.1102.
4 IDH2 mutation in gliomas including novel mutation.Neuropathology. 2015 Jun;35(3):236-44. doi: 10.1111/neup.12187. Epub 2014 Dec 12.
5 LZTR1 is a regulator of RAS ubiquitination and signaling.Science. 2018 Dec 7;362(6419):1171-1177. doi: 10.1126/science.aap8210. Epub 2018 Nov 15.