Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 Biomarker HPO

Entrez Id: 25980
Gene Symbol: AAR2
AAR2
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 GeneticVariation CLINVAR

Entrez Id: 16
Gene Symbol: AARS1
AARS1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 Biomarker HPO

Entrez Id: 18
Gene Symbol: ABAT
ABAT
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.400 Biomarker HPO

Entrez Id: 18
Gene Symbol: ABAT
ABAT
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.400 Biomarker GENOMICS_ENGLAND Personalized medicine approach confirms a milder case of ABAT deficiency. 27903293

2016
Entrez Id: 8647
Gene Symbol: ABCB11
ABCB11
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.010 GeneticVariation BEFREE A novel mutation within a transmembrane helix of the bile salt export pump (BSEP, ABCB11) with delayed development of cirrhosis. 23758865

2013
Entrez Id: 10058
Gene Symbol: ABCB6
ABCB6
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.010 Biomarker BEFREE Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) is a rare hypomyelinating leukodystrophy characterized by infantile or childhood onset of motor developmental delay, progressive rigidity and spasticity, with hypomyelination and progressive atrophy of the basal ganglia and cerebellum due to a genetic mutation of the TUBB4A gene. 30476126

2019
Entrez Id: 22
Gene Symbol: ABCB7
ABCB7
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 Biomarker HPO

Entrez Id: 368
Gene Symbol: ABCC6
ABCC6
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 CausalMutation CLINVAR

Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.110 GeneticVariation BEFREE Wide phenotype variability is associated with single ABCC8 mutations, ranging from transient or permanent neonatal diabetes (ND) with or without developmental delay (DEND syndrome) to very mild phenotypes. 22326206

2012
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.110 Biomarker HPO

Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.010 Biomarker BEFREE Although ABCD1 is responsible for X-linked adrenoleukodystrophy (X-ALD), its phenotype differs from that of CADDS, which manifests with many features of Zellweger syndrome (ZS), including severe growth and developmental retardation, liver dysfunction, cholestasis and early infantile death. 22994209

2013
Entrez Id: 51099
Gene Symbol: ABHD5
ABHD5
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 Biomarker HPO

Entrez Id: 34
Gene Symbol: ACADM
ACADM
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 Biomarker HPO

Entrez Id: 35
Gene Symbol: ACADS
ACADS
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 Biomarker HPO

Entrez Id: 36
Gene Symbol: ACADSB
ACADSB
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 Biomarker HPO

Entrez Id: 39
Gene Symbol: ACAT2
ACAT2
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 Biomarker HPO

Entrez Id: 65057
Gene Symbol: ACD
ACD
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 Biomarker HPO

Entrez Id: 50
Gene Symbol: ACO2
ACO2
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 GeneticVariation CLINVAR

Entrez Id: 51
Gene Symbol: ACOX1
ACOX1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 Biomarker HPO

Entrez Id: 8309
Gene Symbol: ACOX2
ACOX2
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 Biomarker HPO

Entrez Id: 197322
Gene Symbol: ACSF3
ACSF3
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 Biomarker HPO

Entrez Id: 2182
Gene Symbol: ACSL4
ACSL4
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.110 Biomarker HPO

Entrez Id: 2182
Gene Symbol: ACSL4
ACSL4
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.110 GeneticVariation BEFREE Disruption of DMD and deletion of ACSL4 causing developmental delay, hypotonia, and multiple congenital anomalies. 16276108

2006
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 Biomarker HPO