Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 18
Gene Symbol: ABAT
ABAT
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.300 Biomarker GENOMICS_ENGLAND Personalized medicine approach confirms a milder case of ABAT deficiency. 27903293

2016
Entrez Id: 86
Gene Symbol: ACTL6A
ACTL6A
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.300 Biomarker GENOMICS_ENGLAND Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability. 28649782

2017
Entrez Id: 91801
Gene Symbol: ALKBH8
ALKBH8
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.300 Biomarker GENOMICS_ENGLAND Recessive Truncating Mutations in ALKBH8 Cause Intellectual Disability and Severe Impairment of Wobble Uridine Modification. 31079898

2019
Entrez Id: 11154
Gene Symbol: AP4S1
AP4S1
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.300 Biomarker GENOMICS_ENGLAND

Entrez Id: 11154
Gene Symbol: AP4S1
AP4S1
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.300 Biomarker GENOMICS_ENGLAND Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly. 25552650

2015
Entrez Id: 9254
Gene Symbol: CACNA2D2
CACNA2D2
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.300 Biomarker GENOMICS_ENGLAND Cerebellar ataxia, seizures, premature death, and cardiac abnormalities in mice with targeted disruption of the Cacna2d2 gene. 15331424

2004
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.320 Biomarker GENOMICS_ENGLAND Clinical and brain MRI follow-up study of a family with COL4A1 mutation. 17938367

2007
Entrez Id: 1644
Gene Symbol: DDC
DDC
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.300 Biomarker GENOMICS_ENGLAND Aromatic L-amino acid decarboxylase deficiency: clinical features, drug therapy and follow-up. 19172410

2009
Entrez Id: 8560
Gene Symbol: DEGS1
DEGS1
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.300 Biomarker GENOMICS_ENGLAND DEGS1 variant causes neurological disorder. 31186544

2019
Entrez Id: 1729
Gene Symbol: DIAPH1
DIAPH1
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.300 Biomarker GENOMICS_ENGLAND Recently, however, a homozygous nonsense DIAPH1 mutation (c.2332C4T; p.Q778X) was reported in five siblings in a single family affected by microcephaly, blindness, early onset seizures, developmental delay, and bronchiectasis. 26463574

2016
Entrez Id: 2555
Gene Symbol: GABRA2
GABRA2
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.310 Biomarker GENOMICS_ENGLAND Amino acid uptake by the mammary gland of the lactating ewe. 678219

1978
Entrez Id: 2558
Gene Symbol: GABRA5
GABRA5
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		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: 2741
Gene Symbol: GLRA1
GLRA1
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.310 Biomarker GENOMICS_ENGLAND Hyperekplexia: Report on phenotype and genotype of 16 Jordanian patients. 27843043

2017
Entrez Id: 2741
Gene Symbol: GLRA1
GLRA1
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.310 Biomarker GENOMICS_ENGLAND Low cerebrospinal fluid concentration of free gamma-aminobutyric acid in startle disease. 1352015

1992
Entrez Id: 2782
Gene Symbol: GNB1
GNB1
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.310 Biomarker GENOMICS_ENGLAND Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans. 28087732

2017
Entrez Id: 3480
Gene Symbol: IGF1R
IGF1R
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.320 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: 23028
Gene Symbol: KDM1A
KDM1A
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.310 Biomarker GENOMICS_ENGLAND De novo variants in KDM1A underlie a new syndrome characterized by developmental delay and distinctive facial features. 26656649

2016
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.310 Biomarker GENOMICS_ENGLAND Different X-linked KDM5C mutations in affected male siblings: is maternal reversion error involved? 26919706

2016
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.310 Biomarker GENOMICS_ENGLAND Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia. 18697827

2008
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.310 Biomarker GENOMICS_ENGLAND Different X-linked KDM5C mutations in affected male siblings: is maternal reversion error involved? 26919706

2016
Entrez Id: 51594
Gene Symbol: NBAS
NBAS
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.420 Biomarker GENOMICS_ENGLAND Patient 1: NBAS c.5741G>A p.(Arg1914His); c.3010C>T p.(Arg1004*) in a 10-year old boy with significant short stature, bone fragility requiring treatment with bisphosphonates, developmental delay and immunodeficiency. 27789416

2017
Entrez Id: 10464
Gene Symbol: PIBF1
PIBF1
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.300 Biomarker GENOMICS_ENGLAND An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes. 26167768

2015
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.400 Biomarker GENOMICS_ENGLAND PIGQ glycosylphosphatidylinositol-anchored protein deficiency: Characterizing the phenotype. 31148362

2019
Entrez Id: 87178
Gene Symbol: PNPT1
PNPT1
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.300 Biomarker GENOMICS_ENGLAND Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants. 31752325

2019
Entrez Id: 5879
Gene Symbol: RAC1
RAC1
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.310 Biomarker GENOMICS_ENGLAND We report seven individuals with distinct de novo missense RAC1 mutations and varying degrees of developmental delay, brain malformations, and additional phenotypes. 28886345

2017