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: C0000737
Disease: Abdominal Pain
Abdominal Pain 		0.100 Biomarker phenotype HPO
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		0.100 Biomarker phenotype HPO
CUI: C1260926
Disease: Abnormal pigmentation
Abnormal pigmentation 		0.100 Biomarker phenotype HPO
CUI: C4025900
Disease: Abnormality of female internal genitalia
Abnormality of female internal genitalia 		0.100 Biomarker disease HPO
CUI: C4021780
Disease: Abnormality of the liver
Abnormality of the liver 		0.100 Biomarker phenotype HPO
CUI: C4018871
Disease: Abnormality of the respiratory system
Abnormality of the respiratory system 		0.100 Biomarker disease HPO
CUI: C4316903
Disease: Absence Seizures
Absence Seizures 		0.300 Biomarker phenotype CTD_human Somatic Mutations in TSC1 and TSC2 Cause Focal Cortical Dysplasia. 28215400 2017
CUI: C1860710
Disease: Achromatic retinal patches
Achromatic retinal patches 		0.100 Biomarker phenotype HPO
CUI: C0206685
Disease: Acinar Cell Carcinoma
Acinar Cell Carcinoma 		0.010 Biomarker disease BEFREE Roux-en-Y Gastric Bypass Surgery (RYGB) prevents the occurrence of pancreatic cell acinar carcinoma (ACC) in male and female Ngn3-Tsc1-/- mice. 30305629 2018
CUI: C0027859
Disease: Acoustic Neuroma
Acoustic Neuroma 		0.020 Biomarker disease BEFREE We suggest that lack of NF2 protein in VS and lack of TSC1/2 proteins in SGCT determine this fundamental difference between the two tumor types, by defining the predominant TAM type. 28265819 2018
CUI: C0027859
Disease: Acoustic Neuroma
Acoustic Neuroma 		0.020 Biomarker disease BEFREE We suggest that a lack of NF2 protein in VS and a lack of TSC1/TSC2 proteins in SGCT significantly influence this fundamental difference between the two tumor types by changing the dominant TAM type. 28283837 2018
CUI: C0751779
Disease: Action Myoclonus-Renal Failure Syndrome
Action Myoclonus-Renal Failure Syndrome 		0.300 Biomarker disease CTD_human The natural history and treatment of epilepsy in a murine model of tuberous sclerosis. 17484760 2007
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: C0085669
Disease: Acute leukemia
Acute leukemia 		0.020 Biomarker disease BEFREE Now the first evidence is provided for an involvement of the TSC genes in acute leukemia. 19286253 2009
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		0.020 Biomarker disease BEFREE These phenomena led us to hypothesize that TSC gene might be involved in acute leukemia (AL). 19250671 2009
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: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia 		0.050 GeneticVariation disease BEFREE AML and LAM are etiologically linked to mutations in the tsc2 and tsc1 genes in the case of LAM. 27289491 2016
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia 		0.050 AlteredExpression disease BEFREE Both AML and cysts were significantly more common and more numerous in TSC2 than in TSC1. 17003820 2006
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia 		0.050 GeneticVariation disease BEFREE Mutations in tuberous sclerosis (TSC) genes cause the genetic disorder TSC, as well as other neoplasms, including lymphangioleiomyomatosis (LAM) and angiomyolipomas (AMLs). 25476905 2014
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia 		0.050 Biomarker disease BEFREE Anatomic complexity and tumor size were also higher among TSC-related AMLs. 31619031 2019
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia 		0.050 GeneticVariation disease BEFREE Patients with large deletions and frameshift mutations of the TSC1 or TSC2 gene showed larger AML diameters than patients with other kinds of mutations. 28065512 2017
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.050 GeneticVariation group BEFREE Objective response to mTOR inhibition in a metastatic collision tumor of the liver composed of melanoma and adenocarcinoma with TSC1 loss: a case report. 28302097 2017
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.050 GeneticVariation group BEFREE Five (28%) AAHs and seven (41%) adenocarcinomas harbored LOH at loci adjacent to the TSC1 gene. 11696455 2001
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.050 GeneticVariation group BEFREE The incidence of associated AAH was significantly higher in adenocarcinoma harboring a partial LOH in the TSC1-associated region (p = 0.0048). 9699531 1998
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.050 GeneticVariation group BEFREE DNA extracted from frozen tumor tissue was used to screen 47 ACs of the lung for the presence of mutations in 21 coding exons of the TSC1 gene. 15541811 2004