Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
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0.450 | Biomarker | disease | BEFREE | Finally, we demonstrated that in utero gene therapy for Pqbp1-cKO mice by intraperitoneal injection of the PQBP1-AAV vector at E10 successfully rescued microcephaly with preserved cortical structures and improved behavioral abnormalities in Pqbp1-cKO mice, opening a new strategy for treating this intractable developmental disorder. | 25070536 | 2015 | ||||
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0.450 | Biomarker | disease | BEFREE | As for folding pattern assessed by spectral analysis, scaling effect also accounted for the majority of the variations, but an additional negative or positive disease effect was found in the case of ASPM and PQBP1-linked microcephalies, respectively. | 25107856 | 2014 | ||||
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0.450 | Biomarker | disease | BEFREE | PQBP1-linked microcephaly (or Renpenning syndrome) is an X-linked mental retardation syndrome, which has clinically recognizable features. | 20950397 | 2011 | ||||
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0.450 | 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 | ||||
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0.450 | Biomarker | disease | CTD_human | Golabi-Ito-Hall syndrome results from a missense mutation in the WW domain of the PQBP1 gene. | 16740914 | 2006 | ||||
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0.450 | GeneticVariation | disease | LHGDN | Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly. | 15024694 | 2004 | ||||
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0.450 | Biomarker | disease | CTD_human | Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly. | 15024694 | 2004 | ||||
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0.450 | Biomarker | disease | CTD_human | Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation. | 14634649 | 2003 | ||||
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0.450 | Biomarker | disease | HPO |