TUSC3, tumor suppressor candidate 3, 7991

N. diseases: 104; N. variants: 8
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7 ×
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