Details of Disease

General Information of Disease (ID: DIS07GDN)

Disease Name Tuberous sclerosis 1
Synonyms
TSC1; tuberose sclerosis; tuberous sclerosis Complex; tuberous sclerosis, type 1; tuberous sclerosis 1; tuberous sclerosis-1; TSC1 tuberous sclerosis; tuberous sclerosis type 1; tuberous sclerosis caused by mutation in TSC1
Definition Tuberous sclerosis mapped to chromosome 9q34 (TSC1 gene).
Disease Hierarchy
DISEMUGZ: Tuberous sclerosis
DIS07GDN: Tuberous sclerosis 1
Disease Identifiers
MONDO ID
MONDO_0008612
MESH ID
C565346
UMLS CUI
C1854465
OMIM ID
191100
MedGen ID
344288

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
TKT TT04R7I Strong Biomarker [1]
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This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
COL5A1 OT24078H Strong Biomarker [2]
RASD2 OTETA815 Strong Genetic Variation [3]
TSC1 OTFF4YZ7 Definitive Autosomal dominant [4]
TSC2 OT47LWI9 Definitive Biomarker [3]
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References

1 Malignant pleural effusion cells show aberrant glucose metabolism gene expression.Eur Respir J. 2011 Jun;37(6):1453-65. doi: 10.1183/09031936.00015710. Epub 2010 Sep 30.
2 COL5A1: fine genetic mapping and exclusion as candidate gene in families with nail-patella syndrome, tuberous sclerosis 1, hereditary hemorrhagic telangiectasia, and Ehlers-Danlos Syndrome type II.Genomics. 1995 Feb 10;25(3):737-9. doi: 10.1016/0888-7543(95)80021-d.
3 Striatal Transcriptome and Interactome Analysis of Shank3-overexpressing Mice Reveals the Connectivity between Shank3 and mTORC1 Signaling.Front Mol Neurosci. 2017 Jun 28;10:201. doi: 10.3389/fnmol.2017.00201. eCollection 2017.
4 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.