Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 84679
Gene Symbol: SLC9A7
SLC9A7 		0.300 GermlineCausalMutation disease ORPHANET A recurrent missense variant in SLC9A7 causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylation. 30335141 2019
Entrez Id: 63932
Gene Symbol: CXorf56
CXorf56 		0.300 GermlineCausalMutation disease ORPHANET CXorf56, a dendritic neuronal protein, identified as a new candidate gene for X-linked intellectual disability. 29374277 2018
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 The molecular and phenotypic spectrum of IQSEC2-related epilepsy. 27665735 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: 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: 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 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 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 A novel splicing mutation in the IQSEC2 gene that modulates the phenotype severity in a family with intellectual disability. 26733290 2016
Entrez Id: 1183
Gene Symbol: CLCN4
CLCN4 		0.300 GermlineCausalMutation disease ORPHANET X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes. 25644381 2016
Entrez Id: 22866
Gene Symbol: CNKSR2
CNKSR2 		0.300 GermlineCausalMutation disease ORPHANET X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes. 25644381 2016
Entrez Id: 9758
Gene Symbol: FRMPD4
FRMPD4 		0.300 GermlineCausalMutation disease ORPHANET X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes. 25644381 2016
Entrez Id: 389856
Gene Symbol: USP27X
USP27X 		0.300 GermlineCausalMutation disease ORPHANET X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes. 25644381 2016
Entrez Id: 8239
Gene Symbol: USP9X
USP9X 		0.300 GermlineCausalMutation disease ORPHANET Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growth. 24607389 2014
Entrez Id: 79868
Gene Symbol: ALG13
ALG13 		0.300 GermlineCausalMutation disease ORPHANET X chromosome exome sequencing reveals a novel ALG13 mutation in a nonsyndromic intellectual disability family with multiple affected male siblings. 24501762 2014
Entrez Id: 11043
Gene Symbol: MID2
MID2 		0.300 GermlineCausalMutation disease ORPHANET Targeted deep resequencing identifies MID2 mutation for X-linked intellectual disability with varied disease severity in a large kindred from India. 24115387 2014
Entrez Id: 1756
Gene Symbol: DMD
DMD 		0.310 GermlineCausalMutation disease ORPHANET A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy. 23900271 2014
Entrez Id: 7592
Gene Symbol: ZNF41
ZNF41 		0.310 GeneticVariation disease ORPHANET XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing. 23871722 2013
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: 3054
Gene Symbol: HCFC1
HCFC1 		0.310 GermlineCausalMutation disease ORPHANET A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability. 23000143 2012
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
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