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: 10682
Gene Symbol: EBP
EBP 		EBP cholestenol delta-isomerase 0.494 0.846 0.94
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.110 None 1.000 0 0 2014 2014
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: 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 0 0 2015 2019
Entrez Id: 10743
Gene Symbol: RAI1
RAI1 		retinoic acid induced 1 0.545 0.731 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.110 None 1.000 0 0 2010 2010
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: 10765
Gene Symbol: KDM5B
KDM5B 		lysine demethylase 5B 0.532 0.731 7.9E-15
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.110 None 1.000 0 0 2018 2018
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
Entrez Id: 10978
Gene Symbol: CLP1
CLP1 		cleavage factor polyribonucleotide kinase subunit 1 0.700 0.385 0.20
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 10982
Gene Symbol: MAPRE2
MAPRE2 		microtubule associated protein RP/EB family member 2 0.636 0.692 0.83
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 11005
Gene Symbol: SPINK5
SPINK5 		serine peptidase inhibitor Kazal type 5 0.604 0.654 4.8E-28
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 11011
Gene Symbol: TLK2
TLK2 		tousled like kinase 2 0.631 0.538 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 11023
Gene Symbol: VAX1
VAX1 		ventral anterior homeobox 1 0.700 0.423 0.77
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 11041
Gene Symbol: B4GAT1
B4GAT1 		beta-1,4-glucuronyltransferase 1 0.590 0.538 6.9E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 11043
Gene Symbol: MID2
MID2 		midline 2 0.695 0.500 0.18
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 1105
Gene Symbol: CHD1
CHD1 		chromodomain helicase DNA binding protein 1 0.628 0.692 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 1106
Gene Symbol: CHD2
CHD2 		chromodomain helicase DNA binding protein 2 0.585 0.577 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 1107
Gene Symbol: CHD3
CHD3 		chromodomain helicase DNA binding protein 3 0.670 0.577 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.400 strong 1.000 0 0 2019 2019
Entrez Id: 11113
Gene Symbol: CIT
CIT 		citron rho-interacting serine/threonine kinase 0.555 0.692 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0