Source: CTD_human

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 2332
Gene Symbol: FMR1
FMR1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker CTD_human FMR1 gene expansion, large deletion of Xp, and skewed X-inactivation in a girl with mental retardation and autism. 20425835

2010
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 CTD_human A de novo paradigm for mental retardation. 21076407

2010
Entrez Id: 7528
Gene Symbol: YY1
YY1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.600 Biomarker CTD_human A de novo paradigm for mental retardation. 21076407

2010
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.500 Biomarker CTD_human A de novo paradigm for mental retardation. 21076407

2010
Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.480 Biomarker CTD_human A de novo paradigm for mental retardation. 21076407

2010
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.470 Biomarker CTD_human A de novo paradigm for mental retardation. 21076407

2010
Entrez Id: 116442
Gene Symbol: RAB39B
RAB39B
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.460 Biomarker CTD_human A de novo paradigm for mental retardation. 21076407

2010
Entrez Id: 23152
Gene Symbol: CIC
CIC
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.410 Biomarker CTD_human A de novo paradigm for mental retardation. 21076407

2010
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.430 Biomarker CTD_human A functional tetranucleotide (AAAT) polymorphism in an Alu element in the NF1 gene is associated with mental retardation. 21236316

2011
Entrez Id: 7915
Gene Symbol: ALDH5A1
ALDH5A1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker CTD_human A novel ALDH5A1 mutation is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability in an Iranian family. 23825041

2013
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: 324
Gene Symbol: APC
APC
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.310 Biomarker CTD_human Adenomatous polyposis coli and a cytogenetic deletion of chromosome 5 resulting from a maternal intrachromosomal insertion. 8071957

1994
Entrez Id: 4163
Gene Symbol: MCC
MCC
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.300 Biomarker CTD_human Adenomatous polyposis coli and a cytogenetic deletion of chromosome 5 resulting from a maternal intrachromosomal insertion. 8071957

1994
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker CTD_human Although uncommon, point mutations in the FMR1 gene may be a cause of autism and mental retardation in Japanese patients. 15000256

2004
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.450 Biomarker CTD_human Bannayan-Riley-Ruvalcaba syndrome: further delineation of the phenotype and management of PTEN mutation-positive cases. 14574156

2003
Entrez Id: 1630
Gene Symbol: DCC
DCC
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.410 Biomarker CTD_human Biallelic mutations in human DCC cause developmental split-brain syndrome. 28250456

2017
Entrez Id: 124512
Gene Symbol: METTL23
METTL23
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.410 Biomarker CTD_human By means of Sanger sequencing of METTL23, a nonsense mutation was detected in a consanguineous ID family from Pakistan for which homozygosity-by-descent mapping had identified a region on 17q25. 24626631

2014
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker CTD_human De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy. 25751627

2015
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.410 Biomarker CTD_human De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. 20436468

2010
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.650 Biomarker CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992

2011
Entrez Id: 11160
Gene Symbol: ERLIN2
ERLIN2
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.610 Biomarker CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992

2011
Entrez Id: 3340
Gene Symbol: NDST1
NDST1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.610 Biomarker CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992

2011
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.600 Biomarker CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992

2011