PQBP1, polyglutamine binding protein 1, 10084

N. diseases: 139; N. variants: 8
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025362
Disease: Mental Retardation
Mental Retardation
0.180 Biomarker disease BEFREE Together with previously reported observations, our data further confirm that PQBP1 gene should be tested for males showing mental retardation, short stature, lean body and microcephaly. 21315190 2011
CUI: C0025362
Disease: Mental Retardation
Mental Retardation
0.180 Biomarker disease BEFREE Our study points to the critical role of the WW domain in the function of the PQBP1 protein and provides an insight into the molecular mechanism that underlies the X chromosome-linked mental retardation entities classified globally as Renpenning syndrome. 20410308 2010
CUI: C0025362
Disease: Mental Retardation
Mental Retardation
0.180 GeneticVariation disease BEFREE PQBP1 (polyglutamine tract-binding protein 1) is a causative gene for a relatively frequent X-linked syndromic and non-syndromic mental retardation (MR). 19661183 2010
CUI: C0025362
Disease: Mental Retardation
Mental Retardation
0.180 Biomarker disease BEFREE Nematode homologue of PQBP1, a mental retardation causative gene, is involved in lipid metabolism. 19119319 2009
CUI: C0025362
Disease: Mental Retardation
Mental Retardation
0.180 GeneticVariation disease BEFREE A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation. 17033686 2007
CUI: C0025362
Disease: Mental Retardation
Mental Retardation
0.180 GeneticVariation disease BEFREE Frame shift mutations of the polyglutamine binding protein-1 (PQBP1) gene lead to total or partial truncation of the C-terminal domain (CTD) and cause mental retardation in human patients. 16597440 2006
CUI: C0025362
Disease: Mental Retardation
Mental Retardation
0.180 Biomarker disease BEFREE This localisation overlaps MRXS3, a syndromic form of mental retardation resembling that found in the family described here, although with a milder presentation. 9598720 1998
CUI: C0025362
Disease: Mental Retardation
Mental Retardation
0.180 GeneticVariation disease BEFREE Syndromal mental retardations (MRXS) which do not as yet have specific symbols are given unique interim symbols for each syndrome (MRXS1, MRXS2, MRXS3 ...). 1605216 1992
CUI: C0025362
Disease: Mental Retardation
Mental Retardation
0.180 Biomarker disease HPO