Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.200 GeneticVariation group BEFREE IQSEC2 mutation update and review of the female-specific phenotype spectrum including intellectual disability and epilepsy. 30328660 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.200 Biomarker group BEFREE IQSEC2 is an X-linked gene correlated with intellectual disability and epilepsy. 31490346 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.200 GeneticVariation group BEFREE An IQSEC2 Mutation Associated With Intellectual Disability and Autism Results in Decreased Surface AMPA Receptors. 30842726 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.200 Biomarker group BEFREE Sec7 activity and AMPA receptor recycling are presented as two targets, which may respond to drug treatment in IQSEC2-associated ID and autism. 31234416 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.200 GeneticVariation group BEFREE Gonadal mosaicism of a novel IQSEC2 variant causing female limited intellectual disability and epilepsy. 28295038 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.200 GeneticVariation group BEFREE The intelligence quotient (IQ) motif and SEC7 domain containing protein 2 gene (IQSEC2) is located on the X-chromosome and harbors mutations that contribute to non-syndromic ID with and without early-onset seizure phenotypes in both sexes. 28463240 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.200 Biomarker group BEFREE We report these cases to demonstrate the exhaustive work-up prior to finding the changes in IQSEC2 gene, recommend that this gene be considered earlier in the diagnostic evaluation of individuals with global developmental delay, microcephaly, and severe, intractable epilepsy, and support the use of intellectual disability panels including IQSEC2 in the first-line evaluation of these patients. 28815955 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.200 Biomarker group BEFREE However, depending on the severity of the mutation, the phenotypic spectrum of IQSEC2-related ID can range from the classic X-linked nonsyndromal form of the disease to a severe syndrome that has been reported in the context of de novo mutations only, in both male and female patients. 27010919 2016
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.200 Biomarker group BEFREE IQSEC2 is an X-linked gene associated with intellectual disability (ID) and epilepsy. 27665735 2016
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.200 GeneticVariation group BEFREE A novel splicing mutation in the IQSEC2 gene that modulates the phenotype severity in a family with intellectual disability. 26733290 2016
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.200 GeneticVariation group BEFREE Taken together, the data suggest that gains in Xp11.22 including IQSEC2 cause ID and are associated with hyperactivity and attention-deficit/hyperactivity disorder, and are likely to be dosage-sensitive in males. 26059843 2016
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.200 GeneticVariation group BEFREE Overall, our data suggest that heterozygous loss-of-function of the escape genes KDM5C and/or IQSEC2 can contribute to severe ID in female patients and should be taken into account in diagnostics. 25858702 2015
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.200 GeneticVariation group BEFREE Mutations in IQSEC2 have been historically associated with nonsyndromic X-linked intellectual disability. 24306141 2014
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.200 GeneticVariation group BEFREE We propose that truncating mutations in IQSEC2 are responsible for syndromic severe ID in male patients and should be screened in patients without mutations in MECP2, FOXG1, CDKL5 and MEF2C. 23674175 2014
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.200 GeneticVariation group BEFREE In addition to MRX1, IQSEC2 mutations were identified in three other families with X-linked intellectual disability. 20473311 2010
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.200 Biomarker group HPO