TSC1, TSC complex subunit 1, 7248

N. diseases: 391; N. variants: 155
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances
0.010 AlteredExpression phenotype BEFREE Here, we characterized a mouse model of sleep disorders in TSC and investigated mechanisms of sleep dysfunction in this conditional knockout model involving inactivation of the Tsc1 gene in neurons and astrocytes (Tsc1<sup>GFAP</sup>CKO mice). 31605778 2020
CUI: C0851578
Disease: Sleep Disorders
Sleep Disorders
0.010 AlteredExpression group BEFREE Here, we characterized a mouse model of sleep disorders in TSC and investigated mechanisms of sleep dysfunction in this conditional knockout model involving inactivation of the Tsc1 gene in neurons and astrocytes (Tsc1<sup>GFAP</sup>CKO mice). 31605778 2020
CUI: C4696948
Disease: Trauma symptoms
Trauma symptoms
0.010 GeneticVariation phenotype BEFREE In this study, the first to examine psychometrics of a Haitian Kreyòl version of the Trauma Symptom Checklist-40 (TSC-40), we investigated trauma symptoms in survivors of Haiti's 2010 earthquake who reside in Haiti's Cité Soleil slum, a violent neighborhood where non-partner sexual violence (NPSV) is rampant and whose residents are historically underrepresented in research. 31513967 2020
CUI: C0001883
Disease: Airway Obstruction
Airway Obstruction
0.010 Biomarker group BEFREE Cross-sectional study of reversible airway obstruction in LAM: better evidence is needed for bronchodilator and inhaled steroid use. 31363020 2019
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation
0.010 Biomarker disease BEFREE The left atrial maze IV (LAM-IV) alone has been used to eliminate atrial fibrillation (AF) without severe right heart diseases. 31742849 2019
CUI: C0010709
Disease: Cyst
Cyst
0.010 Biomarker disease BEFREE Tsc1 deficiency in Prx1 lineage cells caused development of mild cysts that were positive only for Tamm-Horsfall protein (THP), a loop of Henle marker, while Tsc1 deficiency in Osx lineage cells caused development of cysts that were positive for Villin, a proximal tubular cell marker. 30696882 2019
CUI: C0011847
Disease: Diabetes
Diabetes
0.010 Biomarker disease BEFREE Downstream of insulin-like growth factor receptor, the TSC1/2/ TCB1D7 (tuberous sclerosis complex) and mTOR (mechanistic target of rapamycin) pathways are implicated in many human diseases, including cancer and diabetes. 30684133 2019
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.010 Biomarker group BEFREE Downstream of insulin-like growth factor receptor, the TSC1/2/ TCB1D7 (tuberous sclerosis complex) and mTOR (mechanistic target of rapamycin) pathways are implicated in many human diseases, including cancer and diabetes. 30684133 2019
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy
0.010 Biomarker disease BEFREE Taken together, our results suggest that TSC1 plays a key role in mediating HG-induced EMT, and inhibition of TSC1-regulated mTORC1 signaling may be a potential approach to prevent renal fibrosis in DN. 31235817 2019
CUI: C0018799
Disease: Heart Diseases
Heart Diseases
0.010 Biomarker group BEFREE The left atrial maze IV (LAM-IV) alone has been used to eliminate atrial fibrillation (AF) without severe right heart diseases. 31742849 2019
CUI: C0019693
Disease: HIV Infections
HIV Infections
0.010 Biomarker group BEFREE The lateral flow urine lipoarabinomannan (LF-LAM) assay Alere Determine™ TB LAM Ag is recommended by the World Health Organization (WHO) to help detect active tuberculosis in HIV-positive people with severe HIV disease. 31633805 2019
CUI: C0030193
Disease: Pain
Pain
0.010 AlteredExpression phenotype BEFREE Within the patient cohort, a positive correlation between pain level and TSC in the CSF (r = 0.62) could be observed. 31264011 2019
CUI: C0037286
Disease: Skin Neoplasms
Skin Neoplasms
0.010 GeneticVariation group BEFREE Next-generation sequencing of skin tumor and other samples was used to identify patients with mosaic pathogenic variants in TSC1 or TSC2. 31114024 2019
CUI: C0150080
Disease: Social Communication Disorder
Social Communication Disorder
0.010 Biomarker disease BEFREE Dysregulation of mTOR signaling has been implicated in the pathogenesis of certain types of ASD, and inhibition of mTOR by rapamycin has been demonstrated to be an effective therapeutics for impaired social interaction in Tsc1+/-, Tsc2+/-, Pten-/- mice and valproic acid-induced ASD animal models. 30816216 2019
CUI: C0151332
Disease: Active tuberculosis
Active tuberculosis
0.010 Biomarker disease BEFREE The lateral flow urine lipoarabinomannan (LF-LAM) assay Alere Determine™ TB LAM Ag is recommended by the World Health Organization (WHO) to help detect active tuberculosis in HIV-positive people with severe HIV disease. 31633805 2019
CUI: C0151650
Disease: Renal fibrosis
Renal fibrosis
0.010 AlteredExpression disease BEFREE Overexpression of TSC1 through LV-TSC1 transfection significantly alleviated the progression of EMT and renal fibrosis in the renal cortex of db/db mice. 31235817 2019
CUI: C0152915
Disease: Acute miliary tuberculosis
Acute miliary tuberculosis
0.010 Biomarker disease BEFREE Clinical and microbiologic determinants of mortality included disseminated tuberculosis (positive urine lipoarabinomannan [LAM], urine Xpert MTB/RIF, or tuberculosis blood culture in 79.6% of deaths versus 60.7% of survivors, p = 0.001), sepsis syndrome (high lactate in 50.8% of deaths versus 28.9% of survivors, p < 0.001), and rifampicin-resistant tuberculosis (16.9% of deaths versus 7.2% of survivors, p = 0.002). 31276515 2019
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
0.010 Biomarker disease BEFREE Mutations of the MAPK/TSC/mTOR pathway characterize periventricular glioblastoma with epithelioid SEGA-like morphology-morphological and therapeutic implications. 31258848 2019
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma
0.010 Biomarker disease BEFREE Mutations of the MAPK/TSC/mTOR pathway characterize periventricular glioblastoma with epithelioid SEGA-like morphology-morphological and therapeutic implications. 31258848 2019
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder
0.010 AlteredExpression group BEFREE Specifically, rpS6, p-eIF4E, TSC1 and p-MNK1 expression discriminated patients according to their clinical diagnosis, suggesting that components of protein synthesis signalling pathways might constitute a molecular signature of clinical severity in autism spectrum disorder. 30705255 2019
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.010 Biomarker group BEFREE These findings suggest the different contributions between hyperactivated mTORC1 and Tsc1/2 knockout in social behaviors, and reveal the perturbations of cellular homeostasis by hyperactivated mTORC1 as possible underlying mechanisms of neuronal dysfunctions and death in tuberous sclerosis and neurodegenerative diseases. 30808980 2019
CUI: C0687150
Disease: Parathyroid Gland Adenocarcinoma
Parathyroid Gland Adenocarcinoma
0.010 GeneticVariation disease BEFREE Nine PC samples (47%) harbored at least one potentially actionable genomic alteration including in the after genes: ROS1 (5/19; 26%), PTEN (3/19; 16%), TSC1 (2/19; 11%), PIK3CA (1/19; 5%), AKT1 (1/19; 5%), MTOR (1/19; 5%), ERBB2 (1/19; 5%), NTRK1 (1/19; 5%), IDH1 (1/19; 5%) and FGFR3 (1/19; 5%). 30362515 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.010 AlteredExpression phenotype BEFREE Forced expression of RARβ reversed the effects of miR-29b overexpression in proliferation, migration, and invasion, indicating that it is a critical target. miR-29b expression correlated with low RARβ expression in renal clear cell carcinomas and bladder urothelial carcinomas, tumors associated with TSC gene mutations. 31420607 2019
CUI: C3179349
Disease: Gastrointestinal Stromal Sarcoma
Gastrointestinal Stromal Sarcoma
0.010 AlteredExpression disease BEFREE The results of this and previous studies indicate diversity of genetic changes leading to activation of PI3K-AKT-TSC-mTOR pathway in malignant GISTs. 28777148 2019
CUI: C0006413
Disease: Burkitt Lymphoma
Burkitt Lymphoma
0.010 Biomarker disease BEFREE Our study reveals a novel role for TSC1 in securing homeostasis between MYC and mTORC1 that is required for cell survival and tumor maintenance in Burkitt's lymphoma. 30237309 2018