Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 998
Gene Symbol: CDC42
CDC42
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.430 Biomarker GENOMICS_ENGLAND Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes. 29394990

2018
Entrez Id: 51132
Gene Symbol: RLIM
RLIM
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.430 Biomarker GENOMICS_ENGLAND RNF12 is an X-Encoded dose-dependent activator of X chromosome inactivation. 19945382

2009
Entrez Id: 51132
Gene Symbol: RLIM
RLIM
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.430 Biomarker GENOMICS_ENGLAND X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes. 25644381

2016
Entrez Id: 9439
Gene Symbol: MED23
MED23
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.430 Biomarker GENOMICS_ENGLAND These brothers, who had profound ID, spasticity, congenital heart disease, brain abnormalities, and atypical electroencephalography, represent the first case of MED23-associated ID in a non-consanguineous family. 25845469

2015
Entrez Id: 815
Gene Symbol: CAMK2A
CAMK2A
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.430 Biomarker GENOMICS_ENGLAND Through a multi-center collaborative study based on a whole-exome sequencing approach, we identified 19 exceedingly rare de novo CAMK2A or CAMK2B variants in 24 unrelated individuals with intellectual disability. 29100089

2017
Entrez Id: 53335
Gene Symbol: BCL11A
BCL11A
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.420 Biomarker GENOMICS_ENGLAND Large-scale discovery of novel genetic causes of developmental disorders. 25533962

2015
Entrez Id: 5831
Gene Symbol: PYCR1
PYCR1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.420 Biomarker GENOMICS_ENGLAND Congenital Cutis Laxa Type 2 Associated With Recurrent Aspiration Pneumonia and Growth Delay: Case Report. 26516448

2015
Entrez Id: 6095
Gene Symbol: RORA
RORA
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.420 Biomarker GENOMICS_ENGLAND Through a multi-centric collaboration, we identified three copy-number variant deletions (two de novo and one dominantly inherited in three generations), one de novo disrupting duplication, and nine de novo point mutations (three truncating, one canonical splice site, and five missense mutations) involving RORA in 16 individuals from 13 families with variable neurodevelopmental delay and intellectual disability (ID)-associated autistic features, cerebellar ataxia, and epilepsy. 29656859

2018
Entrez Id: 84706
Gene Symbol: GPT2
GPT2
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.420 Biomarker GENOMICS_ENGLAND We suggest that recessively inherited loss of function GPT2 mutations are a novel cause of intellectual disability. 25758935

2015
Entrez Id: 7204
Gene Symbol: TRIO
TRIO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.420 Biomarker GENOMICS_ENGLAND

Entrez Id: 6328
Gene Symbol: SCN3A
SCN3A
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.420 Biomarker GENOMICS_ENGLAND Mutations in SCN3A cause early infantile epileptic encephalopathy. 29466837

2018
Entrez Id: 81887
Gene Symbol: LAS1L
LAS1L
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.420 Biomarker GENOMICS_ENGLAND X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes. 25644381

2016
Entrez Id: 29072
Gene Symbol: SETD2
SETD2
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.420 Biomarker GENOMICS_ENGLAND SETD2 and DNMT3A screen in the Sotos-like syndrome French cohort. 27317772

2016
Entrez Id: 283489
Gene Symbol: CHAMP1
CHAMP1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.420 Biomarker GENOMICS_ENGLAND We thus establish deleterious de novo mutations in CHAMP1 as a cause of intellectual disability. 26340335

2015
Entrez Id: 56479
Gene Symbol: KCNQ5
KCNQ5
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.420 Biomarker GENOMICS_ENGLAND Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy. 28669405

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: 26278
Gene Symbol: SACS
SACS
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.410 Biomarker GENOMICS_ENGLAND Novel SACS mutations associated with intellectual disability, epilepsy and widespread supratentorial abnormalities. 27871429

2016
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: 5528
Gene Symbol: PPP2R5D
PPP2R5D
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.410 Biomarker GENOMICS_ENGLAND Large-scale discovery of novel genetic causes of developmental disorders. 25533962

2015
Entrez Id: 9758
Gene Symbol: FRMPD4
FRMPD4
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.410 Biomarker GENOMICS_ENGLAND These findings point to an important role of FRMPD4 in normal cognitive development and function in humans and mice, and support the hypothesis that FRMPD4 mutations cause ID by disrupting dendritic spine morphogenesis in glutamatergic neurons. 29267967

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: 84947
Gene Symbol: SERAC1
SERAC1
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: 4036
Gene Symbol: LRP2
LRP2
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.410 Biomarker GENOMICS_ENGLAND Diagnostic exome sequencing in persons with severe intellectual disability. 23033978

2012
Entrez Id: 24137
Gene Symbol: KIF4A
KIF4A
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.410 Biomarker GENOMICS_ENGLAND Our results suggest that mutations in KIF4A and KIF5C cause ID by tipping the balance between excitatory and inhibitory synaptic excitability. 24812067

2014
Entrez Id: 6601
Gene Symbol: SMARCC2
SMARCC2
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.410 Biomarker GENOMICS_ENGLAND Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay. 30580808

2019