Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
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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 | ||||
|
0.180 | GeneticVariation | disease | BEFREE | Mutations in the PQBP1 gene were reported in several X chromosome-linked mental retardation disorders including Golabi-Ito-Hall syndrome. | 20410308 | 2010 | ||||
|
0.180 | Biomarker | disease | BEFREE | Nematode homologue of PQBP1, a mental retardation causative gene, is involved in lipid metabolism. | 19119319 | 2009 | ||||
|
0.180 | Biomarker | 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 | 2009 | ||||
|
0.180 | GeneticVariation | disease | BEFREE | A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation. | 17033686 | 2007 | ||||
|
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 | ||||
|
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 | ||||
|
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 | ||||
|
0.180 | GeneticVariation | disease | CLINVAR |