Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5063
Gene Symbol: PAK3
PAK3
0.300 Biomarker disease CLINGEN A de novo mutation in the X-linked PAK3 gene is the underlying cause of intellectual disability and macrocephaly in monozygotic twins. 28126652 2017
Entrez Id: 5063
Gene Symbol: PAK3
PAK3
0.300 Biomarker disease CLINGEN A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype. 24556213 2014
Entrez Id: 5063
Gene Symbol: PAK3
PAK3
0.300 Biomarker disease CLINGEN A novel splice mutation in PAK3 gene underlying mental retardation with neuropsychiatric features. 18523455 2008
Entrez Id: 5063
Gene Symbol: PAK3
PAK3
0.300 Biomarker disease CLINGEN Abnormal long-lasting synaptic plasticity and cognition in mice lacking the mental retardation gene Pak3. 16014725 2005
Entrez Id: 5063
Gene Symbol: PAK3
PAK3
0.300 Biomarker disease CLINGEN Improvement of Self-Injury With Dopamine and Serotonin Replacement Therapy in a Patient With a Hemizygous PAK3 Mutation: A New Therapeutic Strategy for Neuropsychiatric Features of an Intellectual Disability Syndrome. 29246092 2018
Entrez Id: 5063
Gene Symbol: PAK3
PAK3
0.300 Biomarker disease CLINGEN Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardation. 10946356 2000
Entrez Id: 5063
Gene Symbol: PAK3
PAK3
0.300 Biomarker disease CLINGEN Next-Generation Sequencing Reveals Novel Mutations in X-linked Intellectual Disability. 28481730 2017
Entrez Id: 5063
Gene Symbol: PAK3
PAK3
0.300 Biomarker disease CLINGEN PAK3 mutation in nonsyndromic X-linked mental retardation. 9731525 1998
Entrez Id: 5063
Gene Symbol: PAK3
PAK3
0.300 Biomarker disease CLINGEN PAK3 related mental disability: further characterization of the phenotype. 17853471 2007
Entrez Id: 5063
Gene Symbol: PAK3
PAK3
0.300 Biomarker disease CLINGEN The p21-activated kinase 3 implicated in mental retardation regulates spine morphogenesis through a Cdc42-dependent pathway. 17537723 2007
Entrez Id: 5063
Gene Symbol: PAK3
PAK3
0.300 Biomarker disease CLINGEN Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy. 25666757 2015
Entrez Id: 5063
Gene Symbol: PAK3
PAK3
0.300 Biomarker disease CLINGEN X-linked mild non-syndromic mental retardation with neuropsychiatric problems and the missense mutation A365E in PAK3. 12884430 2003