Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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
Entrez Id: 1741
Gene Symbol: DLG3
DLG3
0.010 Biomarker disease BEFREE This same duplication had also been found in three other families: one with X-linked infantile spasms and hypsarrhythmia (X-linked West syndrome, MIM 308350) and two with XLMR and dystonic movements of the hands (Partington syndrome, MIM 309510). 12376946 2002
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: 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: 8573
Gene Symbol: CASK
CASK
0.300 Biomarker disease CLINGEN Calcium/calmodulin-dependent serine protein kinase (CASK), a protein implicated in mental retardation and autism-spectrum disorders, interacts with T-Brain-1 (TBR1) to control extinction of associative memory in male mice. 28234597 2017
Entrez Id: 254065
Gene Symbol: BRWD3
BRWD3
0.300 Biomarker disease CLINGEN Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability. 28475857 2017
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: 8573
Gene Symbol: CASK
CASK
0.300 Biomarker disease CLINGEN Optic Nerve Hypoplasia Is a Pervasive Subcortical Pathology of Visual System in Neonates. 29067402 2017
Entrez Id: 8573
Gene Symbol: CASK
CASK
0.300 Biomarker disease CLINGEN X-linked intellectual disability gene CASK regulates postnatal brain growth in a non-cell autonomous manner. 27036546 2016
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: 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: 8573
Gene Symbol: CASK
CASK
0.300 Biomarker disease CLINGEN Phenotypic and molecular insights into CASK-related disorders in males. 25886057 2015
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: 254065
Gene Symbol: BRWD3
BRWD3
0.300 Biomarker disease CLINGEN Intellectual disability-associated dBRWD3 regulates gene expression through inhibition of HIRA/YEM-mediated chromatin deposition of histone H3.3. 25666827 2015
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: 2892
Gene Symbol: GRIA3
GRIA3
0.300 Biomarker disease CLINGEN X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes. 24721225 2014
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: 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