TBC1D1, TBC1 domain family member 1, 23216

N. diseases: 25; N. variants: 7
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2937224
Disease: Constitutional obesity
Constitutional obesity
0.030 GeneticVariation disease BEFREE These results confirm a putative role of TBC1D1 R125W variant in familial obesity predisposition. 18325908 2008
Diabetes Mellitus, Non-Insulin-Dependent
0.020 GeneticVariation disease BEFREE In humans, variants in TBC1D1 and TBC1D4 are linked to obesity and insulin resistance and type 2 diabetes. 31627187 2020
Diabetes Mellitus, Non-Insulin-Dependent
0.020 Biomarker disease BEFREE Two related RabGAPs, TBC1D1 and TBC1D4 (=AS160) have been described to be associated with obesity-related traits and type 2 diabetes in both mice and humans. 29784647 2018
CUI: C0206526
Disease: Tuberculosis, Multidrug-Resistant
Tuberculosis, Multidrug-Resistant
0.020 Biomarker disease BEFREE In this cohort study (involving record review) of all diagnosed MDR-TB between January 2015 and June 2016 in project townships, CBMDR-TBC status was categorized as "receiving support" if date of project initiation in patient's township was before the date of diagnosis and "not receiving support", if otherwise. 29596434 2018
CUI: C0206526
Disease: Tuberculosis, Multidrug-Resistant
Tuberculosis, Multidrug-Resistant
0.020 Biomarker disease BEFREE Implementation of CBMDR-TBC coincided with implementation of decentralized MDR-TB centers at district level. 29261669 2017
CUI: C0041296
Disease: Tuberculosis
Tuberculosis
0.020 GeneticVariation disease BEFREE Compared to many other conventional NAAT assays, the hyplex TBC PCR test is in a low price segment which makes it an attractive option for developing and emerging countries with high TB burdens. 20356361 2010
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.020 GeneticVariation disease BEFREE Stone et al. previously reported an association between the TBC1D1 gene variant rs35859249" genes_norm="23216">R125W (rs35859249) and severe obesity in women from US pedigrees. 18325908 2008
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.020 GeneticVariation disease BEFREE Here, we present evidence that genetic variation in TBC1D1 confers risk for severe obesity in females. 16893906 2006
CUI: C0041296
Disease: Tuberculosis
Tuberculosis
0.020 Biomarker disease BEFREE Diagnosis of tuberculosis (TB), especially cutaneous TBC, by conventional microbiologic methods is still a very laborious process and the results are usually inconclusive. 8655234 1996
CUI: C0853897
Disease: Diabetic Cardiomyopathies
Diabetic Cardiomyopathies
0.010 GeneticVariation disease BEFREE Since mutations within TBC1D1 (R125W) display stronger associations with clinical parameters in women, we further examined possible sex differences in the predisposition to diabetic cardiomyopathy. 31845331 2020
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.010 Biomarker group BEFREE When challenged with an 8-week high-fat diet, TBC1D1 KO rats displayed a 4-fold increase in fibrosis compared to WT animals, and this was associated with diastolic dysfunction, suggesting a predisposition to diet-induced cardiomyopathy. 31845331 2020
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.010 Biomarker disease BEFREE Endurance running exercise is an effective alternative to estradiol replacement for restoring hyperglycemia through TBC1D1/GLUT4 pathway in skeletal muscle of ovariectomized rats. 31782092 2019
Human immunodeficiency virus (HIV) II infection category B1
0.010 GeneticVariation disease BEFREE A Phase I HIV-1 prophylactic vaccine trial sponsored by the International AIDS Vaccine Initiative (IAVI) was conducted in India in 2009.The trial tested a HIV-1 subtype C vaccine in a prime-boost regimen, comprising of a DNA prime (ADVAX) and Modified Vaccine Ankara (MVA) (TBC-M4) boost. 30921340 2019
CUI: C0011847
Disease: Diabetes
Diabetes
0.010 PosttranslationalModification disease BEFREE TBC update: personalized epigenetic management of diabetes. 29749858 2017
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.010 PosttranslationalModification group BEFREE TBC update: personalized epigenetic management of diabetes. 29749858 2017
CUI: C0266292
Disease: Congenital anomaly of the kidney
Congenital anomaly of the kidney
0.010 GeneticVariation group BEFREE Whole-exome sequencing identifies mutations of TBC1D1 encoding a Rab-GTPase-activating protein in patients with congenital anomalies of the kidneys and urinary tract (CAKUT). 26572137 2016
CUI: C3536714
Disease: Renal dysplasia
Renal dysplasia
0.010 GeneticVariation disease BEFREE Significantly reduced Glut4 levels were detected in kidneys of Tbc1d1 (-/-) mice and the dysplastic kidney of a TBC1D1 mutation carrier versus controls. 26572137 2016
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.010 GeneticVariation disease BEFREE We analyzed rs9852 and rs35859249 in TBC1D1 in 195 schizophrenia subjects treated mostly with clozapine or olanzapine for up to 14 weeks. 23364847 2013
CUI: C0152244
Disease: Bone Cysts, Aneurysmal
Bone Cysts, Aneurysmal
0.010 Biomarker disease BEFREE In this review, we discuss the most up-to-date findings on the molecular functions of TRE17, the role of its USP and TBC domains, and potential models for how it contributes to transformation and ABC pathogenesis. 22202063 2012
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 Biomarker group BEFREE However, the mechanisms by which TRE17 overexpression contributes to tumor pathogenesis, and the role of its USP and TBC domains, are unknown. 20418905 2010
CUI: C1135161
Disease: Stage 4S neuroblastoma
Stage 4S neuroblastoma
0.010 GeneticVariation disease BEFREE NB4S, a member of the TBC1 domain family of genes, is truncated as a result of a constitutional t(1;10)(p22;q21) chromosome translocation in a patient with stage 4S neuroblastoma. 9618176 1998