Source: GENOMICS_ENGLAND

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 GENOMICS_ENGLAND

Entrez Id: 55690
Gene Symbol: PACS1
PACS1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.440 Biomarker GENOMICS_ENGLAND

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

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker GENOMICS_ENGLAND

Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker GENOMICS_ENGLAND

Entrez Id: 51322
Gene Symbol: WAC
WAC
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.350 Biomarker GENOMICS_ENGLAND

Entrez Id: 27315
Gene Symbol: PGAP2
PGAP2
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.330 Biomarker GENOMICS_ENGLAND

Entrez Id: 1656
Gene Symbol: DDX6
DDX6
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.310 Biomarker GENOMICS_ENGLAND

Entrez Id: 55074
Gene Symbol: OXR1
OXR1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.310 Biomarker GENOMICS_ENGLAND

Entrez Id: 200424
Gene Symbol: TET3
TET3
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.300 Biomarker GENOMICS_ENGLAND

Entrez Id: 55904
Gene Symbol: KMT2E
KMT2E
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.300 Biomarker GENOMICS_ENGLAND

Entrez Id: 64216
Gene Symbol: TFB2M
TFB2M
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.300 Biomarker GENOMICS_ENGLAND

Entrez Id: 390168
Gene Symbol: OR5M1
OR5M1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.300 Biomarker GENOMICS_ENGLAND

Entrez Id: 51294
Gene Symbol: PCDH12
PCDH12
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.300 Biomarker GENOMICS_ENGLAND

Entrez Id: 815
Gene Symbol: CAMK2A
CAMK2A
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.430 Biomarker GENOMICS_ENGLAND De novo variants in CAMK2A and CAMK2B cause neurodevelopmental disorders. 29560374

2018
Entrez Id: 816
Gene Symbol: CAMK2B
CAMK2B
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.410 Biomarker GENOMICS_ENGLAND De novo variants in CAMK2A and CAMK2B cause neurodevelopmental disorders. 29560374

2018
Entrez Id: 23761
Gene Symbol: PISD
PISD
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.300 Biomarker GENOMICS_ENGLAND PISD is a mitochondrial disease gene causing skeletal dysplasia, cataracts, and white matter changes. 30858161

2019
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: 23040
Gene Symbol: MYT1L
MYT1L
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.470 Biomarker GENOMICS_ENGLAND MYT1L duplication was previously reported in schizophrenia, indicating that the gene is dosage-sensitive and that shared neurodevelopmental pathways may be affected in ID and schizophrenia. 21990140

2011
Entrez Id: 1968
Gene Symbol: EIF2S3
EIF2S3
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.430 Biomarker GENOMICS_ENGLAND EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO. 28055140

2017
Entrez Id: 391356
Gene Symbol: PTRHD1
PTRHD1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.320 Biomarker GENOMICS_ENGLAND PTRHD1 and possibly ADORA1 mutations contribute to Parkinsonism with intellectual disability. 29143421

2018
Entrez Id: 51761
Gene Symbol: ATP8A2
ATP8A2
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.410 Biomarker GENOMICS_ENGLAND CAMRQ4 is a rare genetic disorder characterized by mental retardation, ataxia or an inability to walk, dysarthria and, in some patients, quadrupedal gait. 29531481

2018
Entrez Id: 2561
Gene Symbol: GABRB2
GABRB2
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.410 Biomarker GENOMICS_ENGLAND A de novo missense mutation of GABRB2 causes early myoclonic encephalopathy. 27789573

2017
Entrez Id: 51294
Gene Symbol: PCDH12
PCDH12
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.300 Biomarker GENOMICS_ENGLAND A case of new PCDH12 gene variants presented as dyskinetic cerebral palsy with epilepsy. 29556033

2018
Entrez Id: 9379
Gene Symbol: NRXN2
NRXN2
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.310 Biomarker GENOMICS_ENGLAND A de novo 921 Kb microdeletion at 11q13.1 including neurexin 2 in a boy with developmental delay, deficits in speech and language without autistic behaviors. 29654904

2018