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: 3342
Gene Symbol: HTC2
HTC2
hypertrichosis 2 (generalized, congenital) 0.392 0.808
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 1.000 21 0 2005 2019
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
FMRP translational regulator 1 0.473 0.769 0.65
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.200 None 1.000 10 0 2010 2020
Entrez Id: 51095
Gene Symbol: TRNT1
TRNT1
tRNA nucleotidyl transferase 1 0.700 0.192 1.6E-04
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.160 None 1.000 6 0 2014 2019
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
neurexin 1 0.581 0.692 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.060 None 1.000 6 0 2011 2019
Entrez Id: 170302
Gene Symbol: ARX
ARX
aristaless related homeobox 0.516 0.654 0.91
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.150 None 1.000 5 0 2007 2014
Entrez Id: 27086
Gene Symbol: FOXP1
FOXP1
forkhead box P1 0.460 0.808 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.050 None 1.000 5 0 2013 2018
Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2
spectrin beta, non-erythrocytic 2 0.619 0.731 9.9E-05
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.440 moderate 1.000 5 0 2013 2019
Entrez Id: 7531
Gene Symbol: YWHAE
YWHAE
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon 0.530 0.692 0.98
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.150 None 1.000 5 0 2008 2013
Entrez Id: 8260
Gene Symbol: NAA10
NAA10
N-alpha-acetyltransferase 10, NatA catalytic subunit 0.535 0.692 0.76
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.150 None 1.000 5 0 2015 2019
Entrez Id: 1756
Gene Symbol: DMD
DMD
dystrophin 0.423 0.923 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.140 None 0.750 4 0 1992 2018
Entrez Id: 414
Gene Symbol: ARSD
ARSD
arylsulfatase D 0.535 0.808 1.6E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.040 None 1.000 4 0 2013 2019
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
proteolipid protein 1 0.543 0.769 0.93
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.140 None 1.000 4 0 2002 2020
Entrez Id: 57680
Gene Symbol: CHD8
CHD8
chromodomain helicase DNA binding protein 8 0.656 0.577 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.040 None 1.000 4 0 2014 2019
Entrez Id: 6660
Gene Symbol: SOX5
SOX5
SRY-box transcription factor 5 0.545 0.769 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.140 None 1.000 4 0 2013 2017
Entrez Id: 93986
Gene Symbol: FOXP2
FOXP2
forkhead box P2 0.545 0.808 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.040 None 1.000 4 0 2006 2017
Entrez Id: 10735
Gene Symbol: STAG2
STAG2
stromal antigen 2 0.568 0.731 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.420 strong 1.000 3 0 2015 2019
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
collagen type IV alpha 1 chain 0.484 0.731 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.420 strong 1.000 3 0 2007 2017
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
gamma-aminobutyric acid type A receptor subunit beta3 0.546 0.615 0.95
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.130 None 1.000 3 0 1998 2018
Entrez Id: 25970
Gene Symbol: SH2B1
SH2B1
SH2B adaptor protein 1 0.566 0.731 0.97
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.130 None 1.000 3 0 2010 2017
Entrez Id: 26523
Gene Symbol: AGO1
AGO1
argonaute RISC component 1 0.656 0.577 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.320 moderate 1.000 3 0 2015 2018
Entrez Id: 2741
Gene Symbol: GLRA1
GLRA1
glycine receptor alpha 1 0.628 0.500 1.6E-04
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.310 moderate 1.000 3 0 1992 2017
Entrez Id: 3480
Gene Symbol: IGF1R
IGF1R
insulin like growth factor 1 receptor 0.399 0.885 0.97
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.420 strong 1.000 3 0 2013 2017
Entrez Id: 4208
Gene Symbol: MEF2C
MEF2C
myocyte enhancer factor 2C 0.517 0.769 1.7E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.030 None 1.000 3 0 2010 2015
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
paired box 6 0.450 0.769 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.130 None 1.000 3 0 1997 2014
Entrez Id: 55768
Gene Symbol: NGLY1
NGLY1
N-glycanase 1 0.601 0.654 1.5E-13
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.130 None 1.000 3 0 2017 2018