RHEB, Ras homolog, mTORC1 binding, 6009

N. diseases: 53; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.310 AlteredExpression disease BEFREE We identified RHEB and mTOR as upregulated genes in CRC. 31332784 2020
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.310 GeneticVariation disease UNIPROT
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.300 Biomarker disease CTD_human Ras homologue enriched in brain is a critical target of farnesyltransferase inhibitors in non-small cell lung cancer cells. 20554106 2010
CUI: C0431391
Disease: Hemimegalencephaly
Hemimegalencephaly
0.110 GeneticVariation disease BEFREE This is the first report of a somatic mutation in RHEB gene in a patient suffering from Epilepsy secondary to Hemimegalencephaly. 30414531 2019
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy
0.110 GeneticVariation disease BEFREE Identification of a somatic mutation in the RHEB gene through high depth and ultra-high depth next generation sequencing in a patient with Hemimegalencephaly and drug resistant Epilepsy. 30414531 2019
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.110 GeneticVariation disease CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.110 Biomarker disease BEFREE Point mutations of the mTOR-RHEB pathway in renal cell carcinoma. 26255626 2015
CUI: C0431391
Disease: Hemimegalencephaly
Hemimegalencephaly
0.110 GeneticVariation disease CLINVAR
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy
0.110 GeneticVariation disease CLINVAR
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
Malignant Uterine Corpus Neoplasm
0.100 GeneticVariation disease CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Transitional cell carcinoma of bladder
0.100 GeneticVariation disease CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Papillary renal cell carcinoma, sporadic
0.100 GeneticVariation disease CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
0.030 Biomarker disease BEFREE Whereas growth factors inhibit the tuberous sclerosis complex (TSC1-TSC2), a negative Rheb regulator, the role of AAs in Rheb activation remains unknown. 25816988 2015
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
0.030 Biomarker disease LHGDN Structural basis for the unique biological function of small GTPase RHEB. 15728574 2005
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
0.030 Biomarker disease LHGDN Rheb binds tuberous sclerosis complex 2 (TSC2) and promotes S6 kinase activation in a rapamycin- and farnesylation-dependent manner. 12842888 2003
CUI: C0036572
Disease: Seizures
Seizures
0.020 GeneticVariation phenotype BEFREE Importantly, in utero electroporation of the RHEB p.Y35L variant in mice induced S6 phosphorylation, cytomegalic neurons, dysregulated neuron migration, abnormal electroencephalogram, and seizures, all of which are found in patients with FCDII. 31337748 2019
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.020 Biomarker disease BEFREE Integrated analysis of circRNA-100338, miR-141-3p, and target genes revealed that RHEB, a key regulator in mTOR signaling pathway, was the target of miR-141-3p in hepatitis B-related HCC. 31157168 2019
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.020 AlteredExpression disease BEFREE <i>In vivo</i>, upon downregulation of RHEB expression, the tumorigenic ability of HCC significantly decreased (P<0.05). 29467900 2018
CUI: C0036572
Disease: Seizures
Seizures
0.020 GeneticVariation phenotype BEFREE Functional testing of mutant RHEB in vertebrate animal models indicates pathway hyperactivation with a concomitant increase in cell and head size, aberrant neuronal migration, and induction of seizures, concordant with the human phenotype. 29051493 2017
Amaurosis congenita of Leber, type 1
0.010 Biomarker disease BEFREE Additionally, rapamycin (a mTOR antagonist) notably attenuated the effects of Rheb on the autophagy, proliferation, apoptosis, and MITF expression in LCA-treated melanoma cells. 31793097 2020
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.010 Biomarker group BEFREE Mice bearing RagA-RagB- or Rheb1-Rheb2-deficient Treg cells developed a fatal autoimmune disease and had reduced eTreg cell accumulation and function. 31668641 2019
CUI: C0019163
Disease: Hepatitis B
Hepatitis B
0.010 Biomarker disease BEFREE Integrated analysis of circRNA-100338, miR-141-3p, and target genes revealed that RHEB, a key regulator in mTOR signaling pathway, was the target of miR-141-3p in hepatitis B-related HCC. 31157168 2019
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
0.010 AlteredExpression disease BEFREE Human and mouse OA cartilage is degenerated and has markedly reduced levels of RHEB. 31229684 2019
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
0.010 Biomarker disease BEFREE Alcohol-related decrease in mechanistic target of rapamycin (mTOR) and Ras homolog enriched in brain (Rheb), that initiate autophagy, correlated with increased Beclin1 and autophagy-related protein 7 (Atg7), proteins involved in phagophore-autophagosome formation, in ALD. 31090940 2019
CUI: C0221505
Disease: Lesion of brain
Lesion of brain
0.010 GeneticVariation group BEFREE This RHEB mutation carrier had a dramatic increase of ribosomal protein S6 phosphorylation, indicating mTOR activation in the region of the brain lesion. 31337748 2019