Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.500 GeneticVariation group BEFREE Genetic testing led to the detection of an X-linked hemizygous truncating mutation in the nuclear polyglutamine-binding protein 1 (<i>PQBP1</i>) gene confirming the diagnosis of X-linked recessive Renpenning syndrome.<b>Conclusion</b>: The presence of X-linked intellectual disability and characteristic dysmorphism, in a patient with the MAC spectrum should raise the suspicion of Renpenning syndrome. 31718390 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.500 GeneticVariation group BEFREE Frameshift PQBP-1 mutants K192S<sup>fs*7</sup> and R153S<sup>fs*41</sup> implicated in X-linked intellectual disability form stable dimers. 30951824 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.500 Biomarker group BEFREE PQBP1, an intrinsically disordered/denatured protein at the crossroad of intellectual disability and neurodegenerative diseases. 28627366 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.500 Biomarker group GENOMICS_ENGLAND Whole exome sequencing identified a novel missense PQBP1 variant c.530G>A:p.R177H in the second family, in which the index patient presented with intellectual disability and dysmorphic facial features reminiscent of Kabuki-like syndrome and his brain magnetic resonance imaging revealed partial agenesis of corpus callosum, mild vermis, and brainstem hypoplasia. 30244542 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.500 GeneticVariation group BEFREE Whole exome sequencing identified a novel missense PQBP1 variant c.530G>A:p.R177H in the second family, in which the index patient presented with intellectual disability and dysmorphic facial features reminiscent of Kabuki-like syndrome and his brain magnetic resonance imaging revealed partial agenesis of corpus callosum, mild vermis, and brainstem hypoplasia. 30244542 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.500 Biomarker group BEFREE Here, we show that phosphorylation of serine/arginine repetitive matrix 2 (SRRM2) at Ser1068, which is observed in the brains of early phase AD mouse models and postmortem end-stage AD patients, prevents its nuclear translocation by inhibiting interaction with T-complex protein subunit α. SRRM2 deficiency in neurons destabilized polyglutamine binding protein 1 (PQBP1), a causative gene for intellectual disability (ID), greatly affecting the splicing patterns of synapse-related genes, as demonstrated in a newly generated PQBP1-conditional knockout model. 30283027 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.500 GeneticVariation group BEFREE The WW domain belonging to polyglutamine tract-binding protein 1 (PQBP1) is of particular interest due to its direct involvement in several X chromosome-linked intellectual disabilities, including Golabi-Ito-Hall (GIH) syndrome, where a single point mutation (Y65C) correlates with the development of the disease. 27456546 2016
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.500 Biomarker group BEFREE Atypical microduplications allowed us to identify minimal critical regions that might be responsible for specific clinical findings of the syndrome and to suggest possible candidate genes: FTSJ1 and SHROOM4 for intellectual disability along with PQBP1 and SLC35A2 for epilepsy. 25425167 2015
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.500 Biomarker group BEFREE PQBP1, a factor linked to intellectual disability, affects alternative splicing associated with neurite outgrowth. 23512658 2013
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.500 GeneticVariation group BEFREE Mutations in the PQBP1 gene were reported in several X chromosome-linked intellectual disability (XLID) disorders, including Golabi-Ito-Hall (GIH) syndrome. 22710169 2012
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.500 Biomarker group 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: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.500 Biomarker group BEFREE The polyglutamine-binding protein 1 (PQBP1) has been linked to several X-linked intellectual disability disorders and progressive neurodegenerative diseases. 21933836 2011
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.500 GeneticVariation group BEFREE For four mutations affecting ATRX (p.1761M>T), PQBP1 (p.155R>X) and SLC6A8 (p.390P>L and p.477S>L), we provide evidence for a functional involvement of these changes in the aetiology of intellectual disability. 21267006 2011
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.500 GeneticVariation group BEFREE Mutations in the PQBP1 gene were reported in several X chromosome-linked mental retardation disorders including Golabi-Ito-Hall syndrome. 20410308 2010
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.500 Biomarker group 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 2009
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.500 Biomarker group BEFREE Nematode homologue of PQBP1, a mental retardation causative gene, is involved in lipid metabolism. 19119319 2009
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.500 GeneticVariation group BEFREE A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation. 17033686 2007
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.500 GeneticVariation group 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: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.500 Biomarker group 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: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.500 Biomarker group HPO