Source: CURATED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.500 Biomarker CTD_human Three cases with a common breakpoint within SHANK3 share a number of common phenotypic features, such as mental retardation and developmental delay with severely delayed or absent expressive speech. 16284256

2006
Entrez Id: 163175
Gene Symbol: LGI4
LGI4
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.300 Biomarker GENOMICS_ENGLAND The claw paw mutation reveals a role for Lgi4 in peripheral nerve development. 16341215

2006
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.410 Biomarker CTD_human Syndromic craniosynostosis with elbow joint contracture. 16465081

2006
Entrez Id: 200894
Gene Symbol: ARL13B
ARL13B
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker GENOMICS_ENGLAND Molar tooth sign and superior vermian dysplasia: a radiological, clinical, and genetic study. 16541367

2006
Entrez Id: 6697
Gene Symbol: SPR
SPR
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker GENOMICS_ENGLAND Sepiapterin reductase deficiency an autosomal recessive DOPA-responsive dystonia. 16650784

2006
Entrez Id: 23636
Gene Symbol: NUP62
NUP62
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker GENOMICS_ENGLAND Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis. 16786527

2006
Entrez Id: 23499
Gene Symbol: MACF1
MACF1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.300 Biomarker GENOMICS_ENGLAND The role of microtubule actin cross-linking factor 1 (MACF1) in the Wnt signaling pathway. 16815997

2006
Entrez Id: 1000
Gene Symbol: CDH2
CDH2
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.310 Biomarker GENOMICS_ENGLAND N-cadherin mediates cortical organization in the mouse brain. 17222817

2007
Entrez Id: 64220
Gene Symbol: STRA6
STRA6
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.420 Biomarker CTD_human Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation. 17273977

2007
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.450 Biomarker CTD_human Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly. 17427195

2007
Entrez Id: 4774
Gene Symbol: NFIA
NFIA
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.410 Biomarker GENOMICS_ENGLAND NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects. 17530927

2007
Entrez Id: 7846
Gene Symbol: TUBA1A
TUBA1A
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.310 Biomarker GENOMICS_ENGLAND Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A). 17584854

2007
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker CTD_human A patient with vertebral, cognitive and behavioural abnormalities and a de novo deletion of NRXN1alpha. 18057082

2008
Entrez Id: 81704
Gene Symbol: DOCK8
DOCK8
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.310 Biomarker CTD_human Several genes influencing the actin cytoskeleton have been implicated in human cognitive function and thus a possibility exists that the rare mutations in the DOCK8 gene may contribute to some cases of autosomal dominant mental retardation. 18060736

2008
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.500 Biomarker CTD_human Pax6 3' deletion results in aniridia, autism and mental retardation. 18322702

2008
Entrez Id: 4520
Gene Symbol: MTF1
MTF1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.300 Biomarker GENOMICS_ENGLAND Mental retardation in a girl with a subtelomeric deletion on chromosome 20q and complete deletion of the myelin transcription factor 1 gene (MYT1). 18341605

2008
Entrez Id: 57282
Gene Symbol: SLC4A10
SLC4A10
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.310 Biomarker CTD_human Disruption of sodium bicarbonate transporter SLC4A10 in a patient with complex partial epilepsy and mental retardation. 18413482

2008
Entrez Id: 51294
Gene Symbol: PCDH12
PCDH12
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.300 Biomarker GENOMICS_ENGLAND Protocadherin 12 deficiency alters morphogenesis and transcriptional profile of the placenta. 18477666

2008
Entrez Id: 3899
Gene Symbol: AFF3
AFF3
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.330 Biomarker GENOMICS_ENGLAND Triangular tibia with fibular aplasia associated with a microdeletion on 2q11.2 encompassing LAF4. 18616733

2008
Entrez Id: 3899
Gene Symbol: AFF3
AFF3
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.330 Biomarker GENOMICS_ENGLAND Triangular tibia with fibular aplasia associated with a microdeletion on 2q11.2 encompassing LAF4. 18616733

2008
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.410 Biomarker CTD_human A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features. 18627055

2008
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.600 Biomarker GENOMICS_ENGLAND Mutation analysis of the JARID1C gene was conducted in the following cohorts: probands from 23 XLMR families linked to Xp11.2, 92 males with mental retardation and short stature, and 172 probands from small XLMR families with no linkage information. 18697827

2008
Entrez Id: 283989
Gene Symbol: TSEN54
TSEN54
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.300 Biomarker CTD_human tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. 18711368

2008
Entrez Id: 79042
Gene Symbol: TSEN34
TSEN34
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.300 Biomarker CTD_human tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. 18711368

2008
Entrez Id: 80746
Gene Symbol: TSEN2
TSEN2
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.300 Biomarker CTD_human tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. 18711368

2008