Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10157
Gene Symbol: AASS
AASS
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016
Entrez Id: 84320
Gene Symbol: ACBD6
ACBD6
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.500 Biomarker GENOMICS_ENGLAND Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992

2011
Entrez Id: 59272
Gene Symbol: ACE2
ACE2
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.300 Biomarker GENOMICS_ENGLAND Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability. 26350204

2015
Entrez Id: 22985
Gene Symbol: ACIN1
ACIN1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.300 Biomarker GENOMICS_ENGLAND Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability. 26350204

2015
Entrez Id: 23597
Gene Symbol: ACOT9
ACOT9
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.300 Biomarker GENOMICS_ENGLAND Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability. 26350204

2015
Entrez Id: 86
Gene Symbol: ACTL6A
ACTL6A
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.310 Biomarker GENOMICS_ENGLAND Thus, ACTL6A gene mutation analysis should be considered in patients with intellectual disability, learning disabilities, or developmental language disorder. 28649782

2017
Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.410 Biomarker GENOMICS_ENGLAND Autozygome and high throughput confirmation of disease genes candidacy. 30237576

2019
Entrez Id: 95
Gene Symbol: ACY1
ACY1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.300 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016
Entrez Id: 54936
Gene Symbol: ADPRS
ADPRS
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.300 Biomarker GENOMICS_ENGLAND Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome. 30100084

2018
Entrez Id: 158
Gene Symbol: ADSL
ADSL
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.410 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016
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: 392636
Gene Symbol: AGMO
AGMO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.310 Biomarker GENOMICS_ENGLAND To the best of our knowledge, this is the first evidence of an AGMO mutation underlying primary microcephaly and intellectual disability in humans. 27000257

2016
Entrez Id: 392636
Gene Symbol: AGMO
AGMO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.310 Biomarker GENOMICS_ENGLAND Biallelic variants in AGMO with diminished enzyme activity are associated with a neurodevelopmental disorder. 31555905

2019
Entrez Id: 26523
Gene Symbol: AGO1
AGO1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.310 Biomarker GENOMICS_ENGLAND Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder. 29346770

2018
Entrez Id: 9472
Gene Symbol: AKAP6
AKAP6
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.310 Biomarker GENOMICS_ENGLAND Two of these genes were independently mutated in more than one family with similar phenotypes, which substantiates their link to human disease (AKAP6 in intellectual disability and UBR4 in early dementia). 28600779

2017
Entrez Id: 224
Gene Symbol: ALDH3A2
ALDH3A2
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.420 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016
Entrez Id: 8659
Gene Symbol: ALDH4A1
ALDH4A1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016
Entrez Id: 79868
Gene Symbol: ALG13
ALG13
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.310 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016
Entrez Id: 199857
Gene Symbol: ALG14
ALG14
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.300 Biomarker GENOMICS_ENGLAND Early and lethal neurodegeneration with myasthenic and myopathic features: A new ALG14-CDG. 28733338

2017
Entrez Id: 91801
Gene Symbol: ALKBH8
ALKBH8
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.310 Biomarker GENOMICS_ENGLAND In two multiplex consanguineous families, we identified two homozygous truncating ALKBH8 mutations causing intellectual disability. 31079898

2019
Entrez Id: 91801
Gene Symbol: ALKBH8
ALKBH8
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.310 Biomarker GENOMICS_ENGLAND In two multiplex consanguineous families, we identified two homozygous truncating ALKBH8 mutations causing intellectual disability. 31079898

2019
Entrez Id: 162
Gene Symbol: AP1B1
AP1B1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.300 Biomarker GENOMICS_ENGLAND Homozygous Loss-of-Function Mutations in AP1B1, Encoding Beta-1 Subunit of Adaptor-Related Protein Complex 1, Cause MEDNIK-like Syndrome. 31630791

2019
Entrez Id: 1173
Gene Symbol: AP2M1
AP2M1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.300 Biomarker GENOMICS_ENGLAND A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy. 31104773

2019
Entrez Id: 10297
Gene Symbol: APC2
APC2
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker GENOMICS_ENGLAND Directional neuronal migration is impaired in mice lacking adenomatous polyposis coli 2. 22573669

2012