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: 10300
Gene Symbol: KATNB1
KATNB1
katanin regulatory subunit B1 0.674 0.346 1.4E-05
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 0
Entrez Id: 10329
Gene Symbol: RXYLT1
RXYLT1
ribitol xylosyltransferase 1 0.633 0.462 1.1E-06
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 0
Entrez Id: 10352
Gene Symbol: WARS2
WARS2
tryptophanyl tRNA synthetase 2, mitochondrial 0.617 0.577 5.1E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 0
Entrez Id: 10367
Gene Symbol: MICU1
MICU1
mitochondrial calcium uptake 1 0.638 0.654 1.9E-13
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 0
Entrez Id: 10459
Gene Symbol: MAD2L2
MAD2L2
mitotic arrest deficient 2 like 2 0.547 0.731 8.2E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 0
Entrez Id: 10483
Gene Symbol: SEC23B
SEC23B
SEC23 homolog B, COPII coat complex component 0.579 0.692 6.1E-20
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 0
Entrez Id: 10518
Gene Symbol: CIB2
CIB2
calcium and integrin binding family member 2 0.545 0.808 1.4E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 0
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
DEAF1 transcription factor 0.575 0.615 3.4E-04
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 1.000 0 0 2014 2017
Entrez Id: 10535
Gene Symbol: RNASEH2A
RNASEH2A
ribonuclease H2 subunit A 0.592 0.692 4.2E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 0
Entrez Id: 10559
Gene Symbol: SLC35A1
SLC35A1
solute carrier family 35 member A1 0.601 0.654 0.68
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 0
Entrez Id: 10577
Gene Symbol: NPC2
NPC2
NPC intracellular cholesterol transporter 2 0.612 0.769 1.8E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 0
Entrez Id: 10588
Gene Symbol: MTHFS
MTHFS
methenyltetrahydrofolate synthetase 0.678 0.500 2.6E-04
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 0
Entrez Id: 10664
Gene Symbol: CTCF
CTCF
CCCTC-binding factor 0.504 0.769 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 0
Entrez Id: 10667
Gene Symbol: FARS2
FARS2
phenylalanyl-tRNA synthetase 2, mitochondrial 0.615 0.731 9.3E-09
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 0
Entrez Id: 10681
Gene Symbol: GNB5
GNB5
G protein subunit beta 5 0.736 0.308 6.4E-08
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 0
Entrez Id: 10716
Gene Symbol: TBR1
TBR1
T-box brain transcription factor 1 0.666 0.385 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 0
Entrez Id: 10717
Gene Symbol: AP4B1
AP4B1
adaptor related protein complex 4 subunit beta 1 0.631 0.654 1.3E-09
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 0
Entrez Id: 10730
Gene Symbol: YME1L1
YME1L1
YME1 like 1 ATPase 0.633 0.654 2.9E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 0
Entrez Id: 10733
Gene Symbol: PLK4
PLK4
polo like kinase 4 0.551 0.731 7.1E-06
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 0
Entrez Id: 10749
Gene Symbol: KIF1C
KIF1C
kinesin family member 1C 0.700 0.500 0.72
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 0
Entrez Id: 10771
Gene Symbol: ZMYND11
ZMYND11
zinc finger MYND-type containing 11 0.647 0.500 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 1.000 0 0 2014 2014
Entrez Id: 10785
Gene Symbol: WDR4
WDR4
WD repeat domain 4 0.653 0.538 1.4E-08
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 0
Entrez Id: 10806
Gene Symbol: SDCCAG8
SDCCAG8
serologically defined colon cancer antigen 8 0.619 0.577 1.2E-11
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 0
Entrez Id: 10815
Gene Symbol: CPLX1
CPLX1
complexin 1 0.576 0.654 0.82
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 0
Entrez Id: 10847
Gene Symbol: SRCAP
SRCAP
Snf2 related CREBBP activator protein 0.610 0.731 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 0