Source: INFERRED

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: 84910
Gene Symbol: TMEM87B
TMEM87B 		transmembrane protein 87B 0.861 0.115 3.7E-13
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 1.000 1 1 2016 2016
Entrez Id: 8621
Gene Symbol: CDK13
CDK13 		cyclin dependent kinase 13 0.606 0.692 0.91
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 1.000 1 2 2017 2017
Entrez Id: 9024
Gene Symbol: BRSK2
BRSK2 		BR serine/threonine kinase 2 0.700 0.500 0.95
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.400 strong 1.000 1 2 2017 2019
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586 		KIAA0586 0.565 0.731 5.1E-16
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 1.000 1 1 2016 2016
Entrez Id: 10000
Gene Symbol: AKT3
AKT3 		AKT serine/threonine kinase 3 0.512 0.808 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 1
Entrez Id: 100033413
Gene Symbol: SNORD116-1
SNORD116-1 		small nucleolar RNA, C/D box 116-1 0.682 0.423
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 100131801
Gene Symbol: PET100
PET100 		PET100 cytochrome c oxidase chaperone 0.650 0.577 3.6E-04
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 100144748
Gene Symbol: KLLN
KLLN 		killin, p53 regulated DNA replication inhibitor 0.578 0.654 5.1E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 2
Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC 		RNA, U4atac small nuclear (U12-dependent splicing) 0.556 0.808
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 2
Entrez Id: 10020
Gene Symbol: GNE
GNE 		glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase 0.610 0.692 2.5E-16
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 100506658
Gene Symbol: OCLN
OCLN 		occludin 0.507 0.846 8.6E-07
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 1
Entrez Id: 100532724
Gene Symbol: NPHP3-ACAD11
NPHP3-ACAD11 		NPHP3-ACAD11 readthrough (NMD candidate) 0.663 0.577
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 2
Entrez Id: 10059
Gene Symbol: DNM1L
DNM1L 		dynamin 1 like 0.475 0.808 5.7E-04
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.110 None 1.000 0 0 2019 2019
Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1 		HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 0.534 0.769 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 2
Entrez Id: 10083
Gene Symbol: USH1C
USH1C 		USH1 protein network component harmonin 0.628 0.538 4.0E-18
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 10084
Gene Symbol: PQBP1
PQBP1 		polyglutamine binding protein 1 0.570 0.654 0.79
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 10087
Gene Symbol: CERT1
CERT1 		ceramide transporter 1 0.674 0.500 0.67
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 1009
Gene Symbol: CDH11
CDH11 		cadherin 11 0.512 0.808 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 10102
Gene Symbol: TSFM
TSFM 		Ts translation elongation factor, mitochondrial 0.736 0.423 1.9E-09
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 10108
Gene Symbol: MKRN3-AS1
MKRN3-AS1 		MKRN3 antisense RNA 1 0.682 0.423
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 10128
Gene Symbol: LRPPRC
LRPPRC 		leucine rich pentatricopeptide repeat containing 0.493 0.769 2.3E-10
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 10134
Gene Symbol: BCAP31
BCAP31 		B cell receptor associated protein 31 0.579 0.808 0.43
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.120 None 1.000 0 0 2015 2017
Entrez Id: 10165
Gene Symbol: SLC25A13
SLC25A13 		solute carrier family 25 member 13 0.617 0.500 1.3E-24
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 10166
Gene Symbol: SLC25A15
SLC25A15 		solute carrier family 25 member 15 0.711 0.346 3.7E-07
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 101929680
Gene Symbol: SCN1A-AS1
SCN1A-AS1 		SCN1A and SCN9A antisense RNA 1 0.636 0.346
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 3