Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23096
Gene Symbol: IQSEC2
IQSEC2
0.720 GeneticVariation disease CLINVAR Synaptic functions of the IQSEC family of ADP-ribosylation factor guanine nucleotide exchange factors. 27369185 2017
Entrez Id: 23096
Gene Symbol: IQSEC2
IQSEC2
0.720 CausalMutation disease CLINVAR The role of IQSEC2 in syndromic intellectual disability: Narrowing the diagnostic odyssey. 28815955 2017
Entrez Id: 23096
Gene Symbol: IQSEC2
IQSEC2
0.720 GeneticVariation disease CLINVAR Bidirectional regulation of synaptic transmission by BRAG1/IQSEC2 and its requirement in long-term depression. 27009485 2016
Entrez Id: 23096
Gene Symbol: IQSEC2
IQSEC2
0.720 GeneticVariation disease CLINVAR The molecular and phenotypic spectrum of IQSEC2-related epilepsy. 27665735 2016
Entrez Id: 23096
Gene Symbol: IQSEC2
IQSEC2
0.720 CausalMutation disease CLINVAR A novel splicing mutation in the IQSEC2 gene that modulates the phenotype severity in a family with intellectual disability. 26733290 2016
Entrez Id: 23096
Gene Symbol: IQSEC2
IQSEC2
0.720 CausalMutation disease CLINVAR Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients. 27652284 2016
Entrez Id: 23096
Gene Symbol: IQSEC2
IQSEC2
0.720 GeneticVariation disease CLINVAR Novel Missense Mutation A789V in IQSEC2 Underlies X-Linked Intellectual Disability in the MRX78 Family. 26793055 2015
Entrez Id: 23096
Gene Symbol: IQSEC2
IQSEC2
0.720 GeneticVariation disease UNIPROT Novel Missense Mutation A789V in IQSEC2 Underlies X-Linked Intellectual Disability in the MRX78 Family. 26793055 2015
Entrez Id: 23096
Gene Symbol: IQSEC2
IQSEC2
0.720 Biomarker disease CTD_human Novel Missense Mutation A789V in IQSEC2 Underlies X-Linked Intellectual Disability in the MRX78 Family. 26793055 2015
Entrez Id: 23096
Gene Symbol: IQSEC2
IQSEC2
0.720 CausalMutation disease CLINVAR Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability. 23674175 2014
Entrez Id: 23096
Gene Symbol: IQSEC2
IQSEC2
0.720 GermlineCausalMutation disease ORPHANET Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability. 20473311 2010
Entrez Id: 23096
Gene Symbol: IQSEC2
IQSEC2
0.720 Biomarker disease GENOMICS_ENGLAND Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability. 20473311 2010
Entrez Id: 23096
Gene Symbol: IQSEC2
IQSEC2
0.720 GeneticVariation disease CLINVAR Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability. 20473311 2010
Entrez Id: 23096
Gene Symbol: IQSEC2
IQSEC2
0.720 GeneticVariation disease CLINVAR Subtle functional defects in the Arf-specific guanine nucleotide exchange factor IQSEC2 cause non-syndromic X-linked intellectual disability. 21686261 2010
Entrez Id: 23096
Gene Symbol: IQSEC2
IQSEC2
0.720 GeneticVariation disease UNIPROT Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability. 20473311 2010
Entrez Id: 23096
Gene Symbol: IQSEC2
IQSEC2
0.720 Biomarker disease BEFREE Non-specific mental retardations (MRX) are given unique symbols for each family (MRX1, MRX2, MRX3 ...). 1605216 1992
Entrez Id: 23096
Gene Symbol: IQSEC2
IQSEC2
0.720 Biomarker disease BEFREE Gene localization was determined by linkage analysis in 5 families with non-specific X-linked mental retardation (MRX) and were MRX1, Xp11.4-q21.31; MRX10, Xp21.3-p11.4; MRX11, Xp21.3-p11.22; MRX12, Xp21.3-q21.1; and MRX13, Xp22.3-q21.22. 1605217 1992
Entrez Id: 1741
Gene Symbol: DLG3
DLG3
0.550 Biomarker disease MGD Altered thalamocortical development in the SAP102 knockout model of intellectual disability. 27466188 2016
Entrez Id: 1741
Gene Symbol: DLG3
DLG3
0.550 GeneticVariation disease BEFREE Mutations in most of more than 20 known genes causing nonspecific form of X-linked MR (MRX) are very rare and may account for less than 0.5-1% of MR. Linkage studies in extended pedigrees followed by mutational analysis of known MRX genes in the linked interval are often the only way to identify a genetic cause of the disorder. 19012350 2008
Entrez Id: 1741
Gene Symbol: DLG3
DLG3
0.550 GermlineCausalMutation disease ORPHANET Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation. 15185169 2004
Entrez Id: 1741
Gene Symbol: DLG3
DLG3
0.550 GeneticVariation disease BEFREE The 13 MRX genes identified to date account for less than one-fifth of all MRX, suggesting that numerous gene defects cause the disorder in other families. 14628291 2003
Entrez Id: 1741
Gene Symbol: DLG3
DLG3
0.550 GeneticVariation disease BEFREE This MRX localization overlaps with 7 XLMR loci (MRX23, MRX27, MRX30, MRX35, MRX47, MRX53, and MRX63). 12949969 2003
Entrez Id: 1741
Gene Symbol: DLG3
DLG3
0.550 GeneticVariation disease BEFREE This pericentromeric clustering of MRX families suggests allelism, with a minimum of 2 X-linked mental retardation (XLMR) genes in this region. 10449641 1999
Entrez Id: 1741
Gene Symbol: DLG3
DLG3
0.550 GeneticVariation disease BEFREE On the other hand, given the considerable genetic heterogeneity in MRX, one should be extremely cautious in using interfamilial linkage data to narrow down the localisation of MRX genes. 9783701 1998
Entrez Id: 2664
Gene Symbol: GDI1
GDI1
0.500 GermlineCausalMutation disease ORPHANET Novel GDI1 mutation in a large family with nonsyndromic X-linked intellectual disability. 22002931 2011