Harmonizome 3.0

tuberous sclerosis 1

This gene is a tumor suppressor gene that encodes the growth inhibitory protein hamartin. The encoded protein interacts with and stabilizes the GTPase activating protein tuberin. This hamartin-tuberin complex negatively regulates mammalian target of rapamycin complex 1 (mTORC1) signaling which is a major regulator of anabolic cell growth. This protein also functions as a co-chaperone for Hsp90 that inhibits its ATPase activity. This protein functions as a facilitator of Hsp90-mediated folding of kinase and non-kinase clients, including TSC2 and thereby preventing their ubiquitination and proteasomal degradation. Mutations in this gene have been associated with tuberous sclerosis and lymphangioleiomyomatosis. [provided by RefSeq, May 2022]

tuberous sclerosis 2

This gene is a tumor suppressor gene that encodes the growth inhibitory protein tuberin. Tuberin interacts with hamartin to form the TSC protein complex which functions in the control of cell growth. This TSC protein complex negatively regulates mammalian target of rapamycin complex 1 (mTORC1) signaling which is a major regulator of anabolic cell growth. Mutations in this gene have been associated with tuberous sclerosis and lymphangioleiomyomatosis. [provided by RefSeq, May 2022]

polycystic kidney disease, infantile severe, with tuberous sclerosis

From DisGeNET Gene-Disease Associations

genes associated with the disease Tuberous Xanthoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease verruciform xanthoma of skin in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term xanthoma in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

From MPO Gene-Phenotype Associations

gene mutations causing the xanthoma phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Xanthoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Eyelid Xanthoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Cutaneous Xanthoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Atheroeruptive Xanthoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Eruptive Xanthoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Verruciform Xanthoma Of Skin in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Bone Xanthoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Gastric Xanthoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From MGI Mouse Phenotype Associations 2023

gene mutations causing the xanthoma phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Verruciform xanthoma of skin in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

From CTD Gene-Disease Associations

genes/proteins associated with the disease Tuberous Sclerosis 2 from the curated CTD Gene-Disease Associations dataset.

From CTD Gene-Disease Associations

genes/proteins associated with the disease Tuberous Sclerosis 1 from the curated CTD Gene-Disease Associations dataset.

From CTD Gene-Disease Associations

genes/proteins associated with the disease Tuberous Sclerosis from the curated CTD Gene-Disease Associations dataset.

From CTD Gene-Disease Associations

genes/proteins associated with the disease Polycystic kidneys, severe infantile with tuberous sclerosis from the curated CTD Gene-Disease Associations dataset.

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease tuberous sclerosis from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease tuberous sclerosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

From GAD Gene-Disease Associations

genes associated with the disease angiomyolipoma; dna damage; kidney neoplasms; tuberous sclerosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease tuberous sclerosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease tuberous sclerosis phenotypes in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease cysts; epilepsy; tuberous sclerosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease tuberous sclerosis 1 in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term tuberous in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Tuberous Sclerosis phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the polycystic kidney disease, infantile severe, with tuberous sclerosis phenotype from the curated OMIM Gene-Disease Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the tuberous sclerosis-1 phenotype from the curated OMIM Gene-Disease Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the tuberous sclerosis-2 phenotype from the curated OMIM Gene-Disease Associations dataset.

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue tuberous root in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

From PhosphoSitePlus Phosphosite-Disease Associations

proteins associated with the disease tuberous sclerosis from the curated PhosphoSitePlus Phosphosite-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Tuberous Sclerosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Tuberous Sclerosis 1 (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Fibrous Skin Tumor Of Tuberous Sclerosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Tuberous Sclerosis 2 (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Polycystic Kidneys, Severe Infantile With Tuberous Sclerosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Tuberous sclerosis from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Tuberous sclerosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

From TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025

proteins co-occuring with the tissue Tuberous root in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Tuberous sclerosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Tuberous sclerosis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Tuberous sclerosis and lymphangiomyomatosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.