TUSC3, tumor suppressor candidate 3, 7991

N. diseases: 104; N. variants: 8
Disease: Intellectual Disability ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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