Source: CURATED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.670 Biomarker CTD_human Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation. 16236810

2006
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.670 Biomarker GENOMICS_ENGLAND

Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.650 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016
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: 80155
Gene Symbol: NAA15
NAA15
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.630 Biomarker CTD_human Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. 28191889

2017
Entrez Id: 80155
Gene Symbol: NAA15
NAA15
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.630 Biomarker GENOMICS_ENGLAND Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. 28191889

2017
Entrez Id: 55023
Gene Symbol: PHIP
PHIP
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.610 Biomarker CTD_human Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. 28191889

2017
Entrez Id: 55023
Gene Symbol: PHIP
PHIP
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.610 Biomarker GENOMICS_ENGLAND Using whole-exome sequencing, we have identified novel de novo heterozygous pleckstrin homology domain-interacting protein (<i>PHIP</i>) variants that are predicted to be deleterious, including a frameshift deletion, in two unrelated patients with common clinical features of developmental delay, intellectual disability, anxiety, hypotonia, poor balance, obesity, and dysmorphic features. 27900362

2016
Entrez Id: 11160
Gene Symbol: ERLIN2
ERLIN2
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.610 Biomarker GENOMICS_ENGLAND A frameshift mutation of ERLIN2 in recessive intellectual disability, motor dysfunction and multiple joint contractures. 21330303

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

2011
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.600 Biomarker GENOMICS_ENGLAND We investigated a family of three boys with intellectual disability, and among them we identified two different mutations in KDM5C, located at Xp11.22, using whole-exome sequencing. 26919706

2016
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.600 Biomarker GENOMICS_ENGLAND We investigated a family of three boys with intellectual disability, and among them we identified two different mutations in KDM5C, located at Xp11.22, using whole-exome sequencing. 26919706

2016
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.600 Biomarker GENOMICS_ENGLAND Recently, a homozygous missense mutation in MED13L was found in two siblings with non-syndromic ID from a consanguineous family. 23403903

2013
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.600 Biomarker GENOMICS_ENGLAND Recently, a homozygous missense mutation in MED13L was found in two siblings with non-syndromic ID from a consanguineous family. 23403903

2013
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
Entrez Id: 7528
Gene Symbol: YY1
YY1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.600 Biomarker GENOMICS_ENGLAND A de novo paradigm for mental retardation. 21076407

2010
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: 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: 2593
Gene Symbol: GAMT
GAMT
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.600 Biomarker CTD_human Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardation. 15651030

2005
Entrez Id: 2593
Gene Symbol: GAMT
GAMT
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.600 Biomarker GENOMICS_ENGLAND Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man. 8651275

1996
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.550 Biomarker GENOMICS_ENGLAND This family provides strong evidence that homozygous PRRT2 mutations give rise to more severe clinical disease of mental retardation, episodic ataxia, and absences, and, thus, enlarges the clinical spectrum related to PRRT2 mutations. 23126439

2012
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.550 Biomarker CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992

2011