Source: HPO

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 8086
Gene Symbol: AAAS
AAAS 		aladin WD repeat nucleoporin 0.601 0.654 2.4E-13
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 16
Gene Symbol: AARS1
AARS1 		alanyl-tRNA synthetase 1 0.647 0.462 1.8E-08
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 18
Gene Symbol: ABAT
ABAT 		4-aminobutyrate aminotransferase 0.628 0.538 6.3E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.400 moderate 1.000 0 0 2016 2016
Entrez Id: 22
Gene Symbol: ABCB7
ABCB7 		ATP binding cassette subfamily B member 7 0.678 0.385 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		ATP binding cassette subfamily C member 8 0.474 0.846 8.0E-24
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.110 None 1.000 0 0 2012 2012
Entrez Id: 51099
Gene Symbol: ABHD5
ABHD5 		abhydrolase domain containing 5 0.641 0.538 6.4E-07
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 34
Gene Symbol: ACADM
ACADM 		acyl-CoA dehydrogenase medium chain 0.638 0.462 2.1E-12
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 35
Gene Symbol: ACADS
ACADS 		acyl-CoA dehydrogenase short chain 0.663 0.538 2.8E-06
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 36
Gene Symbol: ACADSB
ACADSB 		acyl-CoA dehydrogenase short/branched chain 0.691 0.500 2.7E-11
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 39
Gene Symbol: ACAT2
ACAT2 		acetyl-CoA acetyltransferase 2 0.686 0.462 5.5E-07
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 65057
Gene Symbol: ACD
ACD 		ACD shelterin complex subunit and telomerase recruitment factor 0.603 0.731 1.1E-12
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 51
Gene Symbol: ACOX1
ACOX1 		acyl-CoA oxidase 1 0.610 0.731 6.2E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 8309
Gene Symbol: ACOX2
ACOX2 		acyl-CoA oxidase 2 0.769 0.423 2.2E-10
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 197322
Gene Symbol: ACSF3
ACSF3 		acyl-CoA synthetase family member 3 0.743 0.308 2.3E-26
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 2182
Gene Symbol: ACSL4
ACSL4 		acyl-CoA synthetase long chain family member 4 0.561 0.769 0.98
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.110 None 1.000 0 0 2006 2006
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		actin alpha 1, skeletal muscle 0.540 0.769 1.1E-06
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 60
Gene Symbol: ACTB
ACTB 		actin beta 0.325 0.923 0.99
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.120 None 1.000 0 0 2016 2017
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1 		actin gamma 1 0.477 0.846 4.8E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B 		actin like 6B 0.656 0.462 2.8E-04
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.410 strong 1.000 0 0 2019 2019
Entrez Id: 95
Gene Symbol: ACY1
ACY1 		aminoacylase 1 0.653 0.577 6.9E-09
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.110 None 1.000 0 0 2006 2006
Entrez Id: 9719
Gene Symbol: ADAMTSL2
ADAMTSL2 		ADAMTS like 2 0.666 0.346 1.6E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 103
Gene Symbol: ADAR
ADAR 		adenosine deaminase RNA specific 0.501 0.808 2.6E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 120
Gene Symbol: ADD3
ADD3 		adducin 3 0.641 0.500 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 9289
Gene Symbol: ADGRG1
ADGRG1 		adhesion G protein-coupled receptor G1 0.590 0.654 5.3E-10
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 132
Gene Symbol: ADK
ADK 		adenosine kinase 0.584 0.769 3.1E-04
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.110 None 1.000 0 0 2019 2019