Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5063
Gene Symbol: PAK3
PAK3
0.060 GeneticVariation disease BEFREE A novel splice mutation in PAK3 gene underlying mental retardation with neuropsychiatric features. 18523455 2008
Entrez Id: 5063
Gene Symbol: PAK3
PAK3
0.060 GeneticVariation disease BEFREE We set out to measure the frequency of sequence variants in PAK3 in schizophrenia without premorbid MR. We conducted complete gene reseqeuncing of all coding exons and exon-intron boundaries in patients with schizophrenia with cognitive impairment but without premorbid MR. Deleterious variants in schizophrenia alone were rare (<1/159 or 0.6%). 18805672 2008
Entrez Id: 5063
Gene Symbol: PAK3
PAK3
0.060 GeneticVariation disease BEFREE When comparing the affected males in this family and the three previously reported families with mental retardation due to a PAK3 mutation, similarities in their characteristics were small head size or microcephaly, large ears, speech defects, behavioral abnormalities, and psychiatric disease. 17853471 2007
Entrez Id: 5063
Gene Symbol: PAK3
PAK3
0.060 Biomarker disease BEFREE Together, these data identify PAK3 as a key regulator of synapse formation and plasticity in the hippocampus and support interpretations that these defects might contribute to the cognitive deficits underlying this form of mental retardation. 15574732 2004
Entrez Id: 5063
Gene Symbol: PAK3
PAK3
0.060 GeneticVariation disease BEFREE X-linked mild non-syndromic mental retardation with neuropsychiatric problems and the missense mutation A365E in PAK3. 12884430 2003
Entrez Id: 5063
Gene Symbol: PAK3
PAK3
0.060 GeneticVariation disease BEFREE A novel human gene, TRPC5, was cloned from the region of Xq23 that contains loci for nonsyndromic mental retardation (MRX47 and MRX35) and two genes, DCX and HPAK3, implicated in two X-linked disorders (LISX and MRX30). 10493832 1999