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: 11198
Gene Symbol: SUPT16H
SUPT16H
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.310 Biomarker GENOMICS_ENGLAND The oral hypoglycemic controversy. Stay as sweet as you are. 106193

1979

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: 2741
Gene Symbol: GLRA1
GLRA1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.310 Biomarker GENOMICS_ENGLAND Low cerebrospinal fluid concentration of free gamma-aminobutyric acid in startle disease. 1352015

1992

Entrez Id: 55275
Gene Symbol: VPS53
VPS53
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.400 Biomarker GENOMICS_ENGLAND The acute presentation of intestinal nonrotation. 2920088

1989

Entrez Id: 58499
Gene Symbol: ZNF462
ZNF462
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.320 Biomarker GENOMICS_ENGLAND Temtamy-like syndrome associated with translocation of 2p24 and 9q32. 14564155

2003

Entrez Id: 9254
Gene Symbol: CACNA2D2
CACNA2D2
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.400 Biomarker GENOMICS_ENGLAND Cerebellar ataxia, seizures, premature death, and cardiac abnormalities in mice with targeted disruption of the Cacna2d2 gene. 15331424

2004

Entrez Id: 55163
Gene Symbol: PNPO
PNPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.400 Biomarker GENOMICS_ENGLAND Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidase. 15772097

2005

Entrez Id: 4330
Gene Symbol: MN1
MN1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.310 Biomarker GENOMICS_ENGLAND Targeted disruption of the Mn1 oncogene results in severe defects in development of membranous bones of the cranial skeleton. 15870292

2005

Entrez Id: 163175
Gene Symbol: LGI4
LGI4
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.300 Biomarker GENOMICS_ENGLAND The claw paw mutation reveals a role for Lgi4 in peripheral nerve development. 16341215

2006

Entrez Id: 1000
Gene Symbol: CDH2
CDH2
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.300 Biomarker GENOMICS_ENGLAND N-cadherin mediates cortical organization in the mouse brain. 17222817

2007

Entrez Id: 26173
Gene Symbol: INTS1
INTS1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.300 Biomarker GENOMICS_ENGLAND Targeted disruption of the murine large nuclear KIAA1440/Ints1 protein causes growth arrest in early blastocyst stage embryos and eventual apoptotic cell death. 17544522

2007

Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.420 Biomarker GENOMICS_ENGLAND Clinical and brain MRI follow-up study of a family with COL4A1 mutation. 17938367

2007

Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.410 Biomarker GENOMICS_ENGLAND Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia. 18697827

2008

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: 192683
Gene Symbol: SCAMP5
SCAMP5
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.300 Biomarker GENOMICS_ENGLAND SCAMP5, NBEA and AMISYN: three candidate genes for autism involved in secretion of large dense-core vesicles. 20071347

2010

Entrez Id: 1725
Gene Symbol: DHPS
DHPS
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.400 Biomarker GENOMICS_ENGLAND Essential role of eIF5A-1 and deoxyhypusine synthase in mouse embryonic development. 21850436

2012

Entrez Id: 10297
Gene Symbol: APC2
APC2
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.410 Biomarker GENOMICS_ENGLAND Directional neuronal migration is impaired in mice lacking adenomatous polyposis coli 2. 22573669

2012

Entrez Id: 10297
Gene Symbol: APC2
APC2
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.410 Biomarker GENOMICS_ENGLAND Directional neuronal migration is impaired in mice lacking adenomatous polyposis coli 2. 22573669

2012

Entrez Id: 5833
Gene Symbol: PCYT2
PCYT2
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.310 Biomarker GENOMICS_ENGLAND Mechanism of hypertriglyceridemia in CTP:phosphoethanolamine cytidylyltransferase-deficient mice. 22764088

2012

Entrez Id: 3480
Gene Symbol: IGF1R
IGF1R
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.420 Biomarker GENOMICS_ENGLAND Homozygous mutation of the IGF1 receptor gene in a patient with severe pre- and postnatal growth failure and congenital malformations. 23045302

2013

Entrez Id: 26960
Gene Symbol: NBEA
NBEA
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.300 Biomarker GENOMICS_ENGLAND Haploinsufficiency of the autism candidate gene Neurobeachin induces autism-like behaviors and affects cellular and molecular processes of synaptic plasticity in mice. 23153818

2013