Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 652
Gene Symbol: BMP4
BMP4
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.400 Biomarker GENOMICS_ENGLAND

Entrez Id: 11154
Gene Symbol: AP4S1
AP4S1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.400 Biomarker GENOMICS_ENGLAND

Entrez Id: 55074
Gene Symbol: OXR1
OXR1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.310 Biomarker GENOMICS_ENGLAND

Entrez Id: 200424
Gene Symbol: TET3
TET3
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.300 Biomarker GENOMICS_ENGLAND

Entrez Id: 23111
Gene Symbol: SPART
SPART
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.400 Biomarker GENOMICS_ENGLAND SPG20 mutation in three siblings with familial hereditary spastic paraplegia. 28679690

2017
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.440 Biomarker GENOMICS_ENGLAND A 23 years follow-up study identifies GLUT1 deficiency syndrome initially diagnosed as complicated hereditary spastic paraplegia. 27725288

2016
Entrez Id: 5455
Gene Symbol: POU3F3
POU3F3
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.300 Biomarker GENOMICS_ENGLAND A de novo POU3F3 Deletion in a Boy with Intellectual Disability and Dysmorphic Features. 24550763

2014
Entrez Id: 57178
Gene Symbol: ZMIZ1
ZMIZ1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.410 Biomarker GENOMICS_ENGLAND A de novo t(10;19)(q22.3;q13.33) leads to ZMIZ1/PRR12 reciprocal fusion transcripts in a girl with intellectual disability and neuropsychiatric alterations. 26163108

2015
Entrez Id: 318
Gene Symbol: NUDT2
NUDT2
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.300 Biomarker GENOMICS_ENGLAND A founder nonsense variant in NUDT2 causes a recessive neurodevelopmental disorder in Saudi Arab children. 30059600

2018
Entrez Id: 83480
Gene Symbol: PUS3
PUS3
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.400 Biomarker GENOMICS_ENGLAND A homozygous truncating mutation in PUS3 expands the role of tRNA modification in normal cognition. 27055666

2016
Entrez Id: 1173
Gene Symbol: AP2M1
AP2M1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		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: 1107
Gene Symbol: CHD3
CHD3
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.400 Biomarker GENOMICS_ENGLAND A set of regulatory genes co-expressed in embryonic human brain is implicated in disrupted speech development. 29463886

2019
Entrez Id: 23019
Gene Symbol: CNOT1
CNOT1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.400 Biomarker GENOMICS_ENGLAND A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development. 31006513

2019
Entrez Id: 51075
Gene Symbol: TMX2
TMX2
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.300 Biomarker GENOMICS_ENGLAND Abstracts from the 51st European Society of Human Genetics Conference: Oral Presentations. 31270415

2019
Entrez Id: 51075
Gene Symbol: TMX2
TMX2
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.300 Biomarker GENOMICS_ENGLAND Abstracts from the 51st European Society of Human Genetics Conference: Oral Presentations. 31270415

2019
Entrez Id: 116461
Gene Symbol: TSEN15
TSEN15
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.400 Biomarker GENOMICS_ENGLAND Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. 25558065

2015
Entrez Id: 2558
Gene Symbol: GABRA5
GABRA5
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.310 Biomarker GENOMICS_ENGLAND Altered inhibitory synapses in de novo GABRA5 and GABRA1 mutations associated with early onset epileptic encephalopathies. 31056671

2019
Entrez Id: 2555
Gene Symbol: GABRA2
GABRA2
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.310 Biomarker GENOMICS_ENGLAND Amino acid uptake by the mammary gland of the lactating ewe. 678219

1978
Entrez Id: 23334
Gene Symbol: SZT2
SZT2
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.420 Biomarker GENOMICS_ENGLAND An amino acid deletion inSZT2 in a family with non-syndromic intellectual disability. 24324832

2013
Entrez Id: 10464
Gene Symbol: PIBF1
PIBF1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.400 Biomarker GENOMICS_ENGLAND An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes. 26167768

2015
Entrez Id: 1644
Gene Symbol: DDC
DDC
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.400 Biomarker GENOMICS_ENGLAND Aromatic L-amino acid decarboxylase deficiency: clinical features, drug therapy and follow-up. 19172410

2009
Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.410 Biomarker GENOMICS_ENGLAND Autozygome and high throughput confirmation of disease genes candidacy. 30237576

2019
Entrez Id: 57003
Gene Symbol: CCDC47
CCDC47
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.300 Biomarker GENOMICS_ENGLAND Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay. 30401460

2018
Entrez Id: 2806
Gene Symbol: GOT2
GOT2
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.300 Biomarker GENOMICS_ENGLAND Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy. 31422819

2019
Entrez Id: 2806
Gene Symbol: GOT2
GOT2
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.300 Biomarker GENOMICS_ENGLAND Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy. 31422819

2019