TUSC3, tumor suppressor candidate 3, 7991

N. diseases: 104; N. variants: 8
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1970197
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7 		0.600 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C1970197
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7 		0.600 Biomarker disease GENOMICS_ENGLAND Homozygous single base deletion in TUSC3 causes intellectual disability with developmental delay in an Omani family. 27148795 2016
CUI: C1970197
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7 		0.600 Biomarker disease GENOMICS_ENGLAND A novel nonsense mutation in TUSC3 is responsible for non-syndromic autosomal recessive mental retardation in a consanguineous Iranian family. 21739581 2011
CUI: C1970197
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7 		0.600 CausalMutation disease CLINVAR
CUI: C1970197
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7 		0.600 Biomarker disease CTD_human
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental 		0.300 Biomarker disease CTD_human Systems level analysis and identification of pathways and networks associated with liver fibrosis. 25380136 2014
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.190 Biomarker group BEFREE A Homozygous 1.16 Megabases Microdeletion at 8p22 Including The Whole TUSC3 in A Three Years Old Girl with Intellectual Disability and Speech Delay. 31606977 2020
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.190 GeneticVariation group BEFREE For several years, the cause of autosomal recessive mental retardation has been attributed to the deletion or mutation of a gene named tumor suppressor candidate 3 (TUSC3). 29556302 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.190 GeneticVariation group BEFREE TUSC3 mutations have been previously identified as causing either syndromic or non-syndromic ID in patients from France, Italy, Iran and Pakistan. 27148795 2016
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.190 GeneticVariation group BEFREE This study demonstrated an association between genetic polymorphisms of the TUSC3 gene and MR in the Qinba mountain area, the sixth exon of which might contribute to the risk of MR. 25966277 2015
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.190 Biomarker group BEFREE Although the pathogenic mechanism has not been clarified yet, our report argues for a more prominent role of TUSC3 in the etiology of intellectual disability and that deletions encompassing this gene could be more common than expected. 23825019 2013
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.190 GeneticVariation group BEFREE A novel deletion mutation in the TUSC3 gene in a consanguineous Pakistani family with autosomal recessive nonsyndromic intellectual disability. 21513506 2011
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.190 GeneticVariation group BEFREE A novel nonsense mutation in TUSC3 is responsible for non-syndromic autosomal recessive mental retardation in a consanguineous Iranian family. 21739581 2011
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.190 GeneticVariation group LHGDN Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation. 18455129 2008
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.190 GeneticVariation group BEFREE A defect in the TUSC3 gene is associated with autosomal recessive mental retardation. 18452889 2008
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.190 Biomarker group HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.110 GeneticVariation disease BEFREE Homozygous single base deletion in TUSC3 causes intellectual disability with developmental delay in an Omani family. 27148795 2016
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.110 Biomarker disease HPO
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 Biomarker group BEFREE Here, we show that Wnt/c-Myc signaling upregulates UHRF1, which in turn downregulates TUSC3, a candidate tumor suppressor gene that is frequently deleted or downregulated in several cancers. 31582837 2020
CUI: C1305855
Disease: Body mass index
Body mass index 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C1305855
Disease: Body mass index
Body mass index 		0.100 GeneticVariation phenotype GWASCAT Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. 30239722 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.100 Biomarker group BEFREE Overall, our observations suggest that TUSC3 accelerates cancer growth and induces the epithelial-mesenchymal transition in non-small-cell lung cancer cells; we also identified claudin-1 as a target of TUSC3. 30098333 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.100 Biomarker group BEFREE The tumor suppressor candidate 3 (<i>TUSC3</i>) has been considered to be closely associated with the occurrence, development and invasion of various malignant tumors. 29503566 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.100 AlteredExpression group BEFREE This revealed that lower levels of TUSC3 in gliomas may be associated with a poorly-differentiated (high grade) tumor and thus a higher malignancy. 29556302 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.100 Biomarker group BEFREE These findings provide mechanistic insight of unrecognized roles of TUSC3 in cancer progression and the oncogenic role of HRD1-dependent ERAD in cancer metastasis. 30504895 2018