Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 254065
Gene Symbol: BRWD3
BRWD3 		0.300 Biomarker disease CLINGEN Clinical assessment of five patients with BRWD3 mutation at Xq21.1 gives further evidence for mild to moderate intellectual disability and macrocephaly. 24462886 2014
Entrez Id: 6134
Gene Symbol: RPL10
RPL10 		0.300 Biomarker disease CLINGEN A novel ribosomopathy caused by dysfunction of RPL10 disrupts neurodevelopment and causes X-linked microcephaly in humans. 25316788 2014
Entrez Id: 2892
Gene Symbol: GRIA3
GRIA3 		0.300 Biomarker disease CLINGEN GluA3-deficiency in mice is associated with increased social and aggressive behavior and elevated dopamine in striatum. 22285418 2012
Entrez Id: 8573
Gene Symbol: CASK
CASK 		0.300 Biomarker disease CLINGEN Novel intragenic duplications and mutations of CASK in patients with mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH). 21735175 2012
Entrez Id: 8573
Gene Symbol: CASK
CASK 		0.300 Biomarker disease CLINGEN Phenotypic spectrum associated with CASK loss-of-function mutations. 21954287 2011
Entrez Id: 6134
Gene Symbol: RPL10
RPL10 		0.300 Biomarker disease CLINGEN Mutation and expression analyses of the ribosomal protein gene RPL10 in an extended German sample of patients with autism spectrum disorder. 21567917 2011
Entrez Id: 8573
Gene Symbol: CASK
CASK 		0.300 Biomarker disease CLINGEN Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum. 19165920 2008
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C 		0.300 Biomarker disease CLINGEN Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia. 18697827 2008
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 The p21-activated kinase 3 implicated in mental retardation regulates spine morphogenesis through a Cdc42-dependent pathway. 17537723 2007
Entrez Id: 254065
Gene Symbol: BRWD3
BRWD3 		0.300 Biomarker disease CLINGEN Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly. 17668385 2007
Entrez Id: 8573
Gene Symbol: CASK
CASK 		0.300 Biomarker disease CLINGEN Deletion of CASK in mice is lethal and impairs synaptic function. 17287346 2007
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: 2892
Gene Symbol: GRIA3
GRIA3 		0.300 Biomarker disease CLINGEN Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans. 17989220 2007
Entrez Id: 6134
Gene Symbol: RPL10
RPL10 		0.300 Biomarker disease CLINGEN Mutations in the ribosomal protein gene RPL10 suggest a novel modulating disease mechanism for autism. 16940977 2006
Entrez Id: 2892
Gene Symbol: GRIA3
GRIA3 		0.300 Biomarker disease CLINGEN Involvement of the AMPA receptor GluR-C subunit in alcohol-seeking behavior and relapse. 16436610 2006
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: 8242
Gene Symbol: KDM5C
KDM5C 		0.300 Biomarker disease CLINGEN Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation. 15586325 2005
Entrez Id: 2892
Gene Symbol: GRIA3
GRIA3 		0.300 Biomarker disease CLINGEN Synaptic transmission and plasticity in the absence of AMPA glutamate receptor GluR2 and GluR3. 12848940 2003
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
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: 2892
Gene Symbol: GRIA3
GRIA3 		0.300 Biomarker disease CLINGEN Characterization of the human glutamate receptor subunit 3 gene (GRIA3), a candidate for bipolar disorder and nonspecific X-linked mental retardation. 10644433 1999
Entrez Id: 5063
Gene Symbol: PAK3
PAK3 		0.300 Biomarker disease CLINGEN PAK3 mutation in nonsyndromic X-linked mental retardation. 9731525 1998
Entrez Id: 3925
Gene Symbol: STMN1
STMN1 		0.010 Biomarker disease BEFREE Two genes, ARX (X-LAG; Partington syndrome) and MECP2 (Rett syndrome in females; mild MR with spastic diplegia/psychotic problems in males) are associated with various phenotypes, according to the mutation involved. 23622180 2013
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.010 GeneticVariation disease BEFREE Two genes, ARX (X-LAG; Partington syndrome) and MECP2 (Rett syndrome in females; mild MR with spastic diplegia/psychotic problems in males) are associated with various phenotypes, according to the mutation involved. 23622180 2013