Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: 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: 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: 8242
Gene Symbol: KDM5C
KDM5C 		0.300 Biomarker disease CLINGEN A Mouse Model of X-linked Intellectual Disability Associated with Impaired Removal of Histone Methylation. 26804915 2016
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: 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
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 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 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 PAK3 related mental disability: further characterization of the phenotype. 17853471 2007
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 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 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 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 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 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 A novel splice mutation in PAK3 gene underlying mental retardation with neuropsychiatric features. 18523455 2008
Entrez Id: 5422
Gene Symbol: POLA1
POLA1 		0.300 GermlineCausalMutation disease ORPHANET DNA polymerase-α regulates the activation of type I interferons through cytosolic RNA:DNA synthesis. 27019227 2016
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: 6134
Gene Symbol: RPL10
RPL10 		0.300 Biomarker disease CLINGEN A Novel Mutation in RPL10 (Ribosomal Protein L10) Causes X-Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo-Epiphyseal Dysplasia. 26290468 2015
Entrez Id: 6134
Gene Symbol: RPL10
RPL10 		0.300 Biomarker disease CLINGEN RPL10 mutation segregating in a family with X-linked syndromic Intellectual Disability. 25846674 2015
Entrez Id: 6134
Gene Symbol: RPL10
RPL10 		0.300 Biomarker disease CLINGEN A de novo mutation in RPL10 causes a rare X-linked ribosomopathy characterized by syndromic intellectual disability and epilepsy: A new case and review of the literature. 29066376 2018
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: 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