Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5063
Gene Symbol: PAK3
PAK3
0.330 GermlineCausalMutation disease ORPHANET A novel splice mutation in PAK3 gene underlying mental retardation with neuropsychiatric features. 18523455 2008
Entrez Id: 5063
Gene Symbol: PAK3
PAK3
0.330 GeneticVariation disease BEFREE Mutations of the gene coding for PAK3 (p21-activated kinase 3) are associated with X-linked, nonsyndromic forms of mental retardation (MRX) in which the only distinctive clinical feature is the cognitive deficit. 15574732 2004
Entrez Id: 5063
Gene Symbol: PAK3
PAK3
0.330 GeneticVariation disease BEFREE As skewed X-inactivation, an apparently constant feature in FACL4 carrier females was not observed in an obligate carrier belonging to the MRX family presented here, the PAK3 gene should be considered as the strongest candidate for this MRX locus. 12949969 2003
Entrez Id: 5063
Gene Symbol: PAK3
PAK3
0.330 GeneticVariation disease BEFREE Affected individuals in a multiplex pedigree with MRX (MRX30), previously mapped to Xq22, show a point mutation in the PAK3 (p21-activated kinase) gene, which encodes a serine-threonine kinase. 9731525 1998