Source: CURATED ×
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 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 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 UNIPROT Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability. 20473311 2010
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: 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: 5063
Gene Symbol: PAK3
PAK3 		0.330 GermlineCausalMutation disease ORPHANET A novel splice mutation in PAK3 gene underlying mental retardation with neuropsychiatric features. 18523455 2008
Entrez Id: 2182
Gene Symbol: ACSL4
ACSL4 		0.330 GermlineCausalMutation disease ORPHANET FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation. 11889465 2002
Entrez Id: 170302
Gene Symbol: ARX
ARX 		0.320 GermlineCausalMutation disease ORPHANET XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) gene. 15850492 2005
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.320 GermlineCausalMutation disease ORPHANET In addition to the results demonstrating the involvement of MECP2 in MRX, this study shows that the frequency of mutations in MECP2 in the mentally retarded population screened for the fragile X syndrome is comparable to the frequency of the CGG expansions in FMR1. 11309367 2001
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: 3054
Gene Symbol: HCFC1
HCFC1 		0.310 GermlineCausalMutation disease ORPHANET A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability. 23000143 2012
Entrez Id: 11141
Gene Symbol: IL1RAPL1
IL1RAPL1 		0.310 GermlineCausalMutation disease ORPHANET Our data further confirm the importance and usefulness of linkage studies for gene mapping in MRX families and demonstrate that IL1RAPL1 plays an important role in the etiology of MRX. 19012350 2008
Entrez Id: 24140
Gene Symbol: FTSJ1
FTSJ1 		0.310 GermlineCausalMutation disease ORPHANET A loss-of-function mutation in the FTSJ1 gene causes nonsyndromic X-linked mental retardation in a Japanese family. 18081026 2008
Entrez Id: 11141
Gene Symbol: IL1RAPL1
IL1RAPL1 		0.310 GermlineCausalMutation disease ORPHANET A truncating mutation in the IL1RAPL1 gene is responsible for X-linked mental retardation in the MRX21 family. 16470793 2006
Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3 		0.310 GermlineCausalMutation disease ORPHANET Mutations in the RSK2(RPS6KA3) gene cause Coffin-Lowry syndrome and nonsyndromic X-linked mental retardation. 17100996 2006
Entrez Id: 7102
Gene Symbol: TSPAN7
TSPAN7 		0.310 GermlineCausalMutation disease ORPHANET A novel 2 bp deletion in the TM4SF2 gene is associated with MRX58. 12070254 2002
Entrez Id: 7102
Gene Symbol: TSPAN7
TSPAN7 		0.310 GermlineCausalMutation disease ORPHANET A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation. 10655063 2000
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: 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