Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: 139411
Gene Symbol: PTCHD1
PTCHD1 		0.300 GeneticVariation disease ORPHANET Deletion in Xp22.11: PTCHD1 is a candidate gene for X-linked intellectual disability with or without autism. 21091464 2011
Entrez Id: 139411
Gene Symbol: PTCHD1
PTCHD1 		0.300 GeneticVariation disease ORPHANET Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability. 20844286 2010
Entrez Id: 116442
Gene Symbol: RAB39B
RAB39B 		0.300 GermlineCausalMutation disease ORPHANET Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly. 20159109 2010
Entrez Id: 65109
Gene Symbol: UPF3B
UPF3B 		0.300 GermlineCausalMutation disease ORPHANET Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism. 19238151 2010
Entrez Id: 7552
Gene Symbol: ZNF711
ZNF711 		0.300 GermlineCausalMutation disease ORPHANET A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. 19377476 2009
Entrez Id: 6855
Gene Symbol: SYP
SYP 		0.300 GermlineCausalMutation disease ORPHANET A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. 19377476 2009
Entrez Id: 65109
Gene Symbol: UPF3B
UPF3B 		0.300 GermlineCausalMutation disease ORPHANET Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation. 17704778 2007
Entrez Id: 186
Gene Symbol: AGTR2
AGTR2 		0.300 GermlineCausalMutation disease ORPHANET Identification of two AGTR2 mutations in male patients with non-syndromic mental retardation. 14598163 2004
Entrez Id: 347344
Gene Symbol: ZNF81
ZNF81 		0.300 GermlineCausalMutation disease ORPHANET Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation. 15121780 2004
Entrez Id: 9459
Gene Symbol: ARHGEF6
ARHGEF6 		0.300 GermlineCausalMutation disease ORPHANET Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation. 11017088 2000
Entrez Id: 9968
Gene Symbol: MED12
MED12 		0.300 GeneticVariation disease ORPHANET
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 Biomarker disease BEFREE 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: 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: 7592
Gene Symbol: ZNF41
ZNF41 		0.310 GeneticVariation disease BEFREE Moreover, screening of a panel of patients with MRX led to the identification of two other ZNF41 mutations that were not found in healthy control individuals. 14628291 2003