Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 51317
Gene Symbol: PHF21A
PHF21A
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.470 Biomarker GENOMICS_ENGLAND This study shows that PHF21A haploinsufficiency results in intellectual disability and craniofacial anomalies and possibly contributes to susceptibility to autism spectrum disorder, epilepsy, and overgrowth, all of which are PSS features. 30487643

2019
Entrez Id: 51114
Gene Symbol: ZDHHC9
ZDHHC9
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.460 Biomarker GENOMICS_ENGLAND Expanding the molecular basis and phenotypic spectrum of ZDHHC9-associated X-linked intellectual disability. 29681091

2018
Entrez Id: 4212
Gene Symbol: MEIS2
MEIS2
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.460 Biomarker GENOMICS_ENGLAND Haploinsufficiency of MEIS2 is associated with orofacial clefting and learning disability. 24678003

2014
Entrez Id: 1654
Gene Symbol: DDX3X
DDX3X
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.460 Biomarker GENOMICS_ENGLAND Large-scale discovery of novel genetic causes of developmental disorders. 25533962

2015
Entrez Id: 10664
Gene Symbol: CTCF
CTCF
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.460 Biomarker GENOMICS_ENGLAND By trio exome sequencing and subsequent mutational screening we now identified two de novo frameshift mutations and one de novo missense mutation in CTCF in individuals with intellectual disability, microcephaly, and growth retardation. 23746550

2013
Entrez Id: 4212
Gene Symbol: MEIS2
MEIS2
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.460 Biomarker GENOMICS_ENGLAND De novo missense variants in MEIS2 recapitulate the microdeletion phenotype of cardiac and palate abnormalities, developmental delay, intellectual disability and dysmorphic features. 30055086

2018
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.450 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016
Entrez Id: 23126
Gene Symbol: POGZ
POGZ
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.450 Biomarker GENOMICS_ENGLAND Large-scale discovery of novel genetic causes of developmental disorders. 25533962

2015
Entrez Id: 3097
Gene Symbol: HIVEP2
HIVEP2
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.450 Biomarker GENOMICS_ENGLAND Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability. 26350204

2015
Entrez Id: 5879
Gene Symbol: RAC1
RAC1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.450 Biomarker GENOMICS_ENGLAND RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes. 28886345

2017
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.450 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016
Entrez Id: 55690
Gene Symbol: PACS1
PACS1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.440 Biomarker GENOMICS_ENGLAND Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome. 23159249

2012
Entrez Id: 55690
Gene Symbol: PACS1
PACS1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.440 Biomarker GENOMICS_ENGLAND

Entrez Id: 55690
Gene Symbol: PACS1
PACS1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.440 Biomarker GENOMICS_ENGLAND Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study. 30712880

2019
Entrez Id: 3192
Gene Symbol: HNRNPU
HNRNPU
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.440 Biomarker GENOMICS_ENGLAND Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients. 27652284

2016
Entrez Id: 6872
Gene Symbol: TAF1
TAF1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.440 Biomarker GENOMICS_ENGLAND Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability. 26350204

2015
Entrez Id: 79882
Gene Symbol: ZC3H14
ZC3H14
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.440 Biomarker GENOMICS_ENGLAND Here we report a human intellectual disability disease locus on chromosome 14q31.3 corresponding to mutation of the ZC3H14 gene that encodes a conserved polyadenosine RNA binding protein. 21734151

2011
Entrez Id: 6487
Gene Symbol: ST3GAL3
ST3GAL3
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.430 Biomarker GENOMICS_ENGLAND Three missense variants of ST3GAL3 are known to be responsible for a congenital disorder of glycosylation determining a neurodevelopmental disorder (intellectual disability/epileptic encephalopathy). 31584066

2020
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: 54517
Gene Symbol: PUS7
PUS7
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.430 Biomarker GENOMICS_ENGLAND Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior. 30526862

2018
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: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.430 Biomarker GENOMICS_ENGLAND Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsy. 28051072

2017
Entrez Id: 760
Gene Symbol: CA2
CA2
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.430 Biomarker GENOMICS_ENGLAND Carbonic anhydrase II deficiency syndrome in a Belgian family is caused by a point mutation at an invariant histidine residue (107 His----Tyr): complete structure of the normal human CA II gene. 1928091

1991
Entrez Id: 51256
Gene Symbol: TBC1D7
TBC1D7
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.430 Biomarker GENOMICS_ENGLAND Mutations in TBC1D7 were reported in a family with intellectual disability (ID) and macrocrania. 24515783

2014