Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9439
Gene Symbol: MED23
MED23
0.430 Biomarker group BEFREE Deleterious mutations in MED12, MED17 and MED23 have already been associated with ID. 25527630 2015
Entrez Id: 9439
Gene Symbol: MED23
MED23
0.430 Biomarker group BEFREE These brothers, who had profound ID, spasticity, congenital heart disease, brain abnormalities, and atypical electroencephalography, represent the first case of MED23-associated ID in a non-consanguineous family. 25845469 2015
Entrez Id: 9439
Gene Symbol: MED23
MED23
0.430 Biomarker group GENOMICS_ENGLAND These brothers, who had profound ID, spasticity, congenital heart disease, brain abnormalities, and atypical electroencephalography, represent the first case of MED23-associated ID in a non-consanguineous family. 25845469 2015
Entrez Id: 9439
Gene Symbol: MED23
MED23
0.430 GeneticVariation group BEFREE Here, we report a missense mutation (p. R617Q) in MED23 that cosegregates with nonsyndromic autosomal recessive intellectual disability. 21868677 2011
Entrez Id: 9439
Gene Symbol: MED23
MED23
0.430 Biomarker group HPO