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 0.567 0.586 1.5E-13
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 0 0
Entrez Id: 16
Gene Symbol: AARS
AARS
alanyl-tRNA synthetase 0.667 0.345 8.1E-09
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 0 0
Entrez Id: 18
Gene Symbol: ABAT
ABAT
4-aminobutyrate aminotransferase 0.639 0.276 6.0E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 0 0
Entrez Id: 22
Gene Symbol: ABCB7
ABCB7
ATP binding cassette subfamily B member 7 0.720 0.241 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 0 0
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
ATP binding cassette subfamily C member 8 0.508 0.690 2.7E-23
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.110 1.000 0 0 2012 2012
Entrez Id: 34
Gene Symbol: ACADM
ACADM
acyl-CoA dehydrogenase medium chain 0.696 0.379 2.0E-12
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 0 0
Entrez Id: 35
Gene Symbol: ACADS
ACADS
acyl-CoA dehydrogenase short chain 0.762 0.276 2.0E-06
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 0 0
Entrez Id: 36
Gene Symbol: ACADSB
ACADSB
acyl-CoA dehydrogenase short/branched chain 0.752 0.241 3.6E-11
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 0 0
Entrez Id: 39
Gene Symbol: ACAT2
ACAT2
acetyl-CoA acetyltransferase 2 0.720 0.310 6.0E-07
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 0 0
Entrez Id: 65057
Gene Symbol: ACD
ACD
ACD, shelterin complex subunit and telomerase recruitment factor 0.624 0.690 3.8E-13
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 0 0
Entrez Id: 51
Gene Symbol: ACOX1
ACOX1
acyl-CoA oxidase 1 0.639 0.448 9.5E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 0 0
Entrez Id: 8309
Gene Symbol: ACOX2
ACOX2
acyl-CoA oxidase 2 0.762 0.414 1.4E-10
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 0 0
Entrez Id: 197322
Gene Symbol: ACSF3
ACSF3
acyl-CoA synthetase family member 3 0.815 0.172 1.3E-26
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 0 0
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1
actin, alpha 1, skeletal muscle 0.590 0.586 9.5E-07
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 0 0
Entrez Id: 60
Gene Symbol: ACTB
ACTB
actin beta 0.453 0.862 0.99
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.110 1.000 0 0 2017 2017
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1
actin gamma 1 0.567 0.759 4.7E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 0 0
Entrez Id: 95
Gene Symbol: ACY1
ACY1
aminoacylase 1 0.667 0.448 4.1E-09
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.110 1.000 0 0 2006 2006
Entrez Id: 9719
Gene Symbol: ADAMTSL2
ADAMTSL2
ADAMTS like 2 0.676 0.276 1.4E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 0 0
Entrez Id: 103
Gene Symbol: ADAR
ADAR
adenosine deaminase, RNA specific 0.586 0.655 3.7E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 0 0
Entrez Id: 120
Gene Symbol: ADD3
ADD3
adducin 3 0.659 0.483 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 0 0
Entrez Id: 9289
Gene Symbol: ADGRG1
ADGRG1
adhesion G protein-coupled receptor G1 0.667 0.414
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 0 0
Entrez Id: 132
Gene Symbol: ADK
ADK
adenosine kinase 0.639 0.483 3.6E-04
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 0 0
Entrez Id: 23394
Gene Symbol: ADNP
ADNP
activity dependent neuroprotector homeobox 0.663 0.517 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 0 0
Entrez Id: 158
Gene Symbol: ADSL
ADSL
adenylosuccinate lyase 0.685 0.379 1.0E-10
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.150 1.000 0 0 1998 2014
Entrez Id: 27125
Gene Symbol: AFF4
AFF4
AF4/FMR2 family member 4 0.659 0.655 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 0 0