Source: CLINVAR

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: 583
Gene Symbol: BBS2
BBS2 		Bardet-Biedl syndrome 2 0.565 0.654 1.0E-17
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 1
Entrez Id: 57231
Gene Symbol: SNX14
SNX14 		sorting nexin 14 0.659 0.423 6.1E-17
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 1
Entrez Id: 1801
Gene Symbol: DPH1
DPH1 		diphthamide biosynthesis 1 0.653 0.538 8.0E-17
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.140 None 1.000 0 1 2005 2020
Entrez Id: 54903
Gene Symbol: MKS1
MKS1 		MKS transition zone complex subunit 1 0.505 0.769 3.4E-16
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 1
Entrez Id: 7701
Gene Symbol: ZNF142
ZNF142 		zinc finger protein 142 0.861 0.192 4.8E-16
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.400 strong 1.000 1 3 2019 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: 2706
Gene Symbol: GJB2
GJB2 		gap junction protein beta 2 0.441 0.846 6.6E-16
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 1
Entrez Id: 79600
Gene Symbol: TCTN1
TCTN1 		tectonic family member 1 0.597 0.615 1.1E-15
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 1
Entrez Id: 51741
Gene Symbol: WWOX
WWOX 		WW domain containing oxidoreductase 0.453 0.808 1.2E-15
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.130 None 1.000 0 1 2016 2018
Entrez Id: 4285
Gene Symbol: MIPEP
MIPEP 		mitochondrial intermediate peptidase 0.666 0.615 1.6E-15
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 1.000 1 2 2016 2016
Entrez Id: 93627
Gene Symbol: TBCK
TBCK 		TBC1 domain containing kinase 0.650 0.654 2.1E-15
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.110 None 1.000 0 2 2018 2018
Entrez Id: 1284
Gene Symbol: COL4A2
COL4A2 		collagen type IV alpha 2 chain 0.563 0.654 3.6E-15
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 1
Entrez Id: 2581
Gene Symbol: GALC
GALC 		galactosylceramidase 0.604 0.615 5.2E-15
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 2
Entrez Id: 54496
Gene Symbol: PRMT7
PRMT7 		protein arginine methyltransferase 7 0.674 0.538 5.5E-15
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 2
Entrez Id: 4210
Gene Symbol: MEFV
MEFV 		MEFV innate immuity regulator, pyrin 0.440 0.885 1.0E-14
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 1
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1 		ASXL transcriptional regulator 1 0.482 0.808 1.3E-14
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 2
Entrez Id: 23334
Gene Symbol: SZT2
SZT2 		SZT2 subunit of KICSTOR complex 0.670 0.423 2.3E-14
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.420 limited 1.000 0 2 2013 2019
Entrez Id: 9772
Gene Symbol: TMEM94
TMEM94 		transmembrane protein 94 0.628 0.654 2.8E-14
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.400 strong 1.000 0 2 2018 2018
Entrez Id: 11284
Gene Symbol: PNKP
PNKP 		polynucleotide kinase 3'-phosphatase 0.553 0.692 3.7E-14
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.120 None 1.000 0 1 2010 2019
Entrez Id: 23552
Gene Symbol: CDK20
CDK20 		cyclin dependent kinase 20 0.682 0.462 5.9E-14
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 1
Entrez Id: 57038
Gene Symbol: RARS2
RARS2 		arginyl-tRNA synthetase 2, mitochondrial 0.663 0.462 7.7E-14
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.110 None 1.000 0 2 2013 2013
Entrez Id: 25974
Gene Symbol: MMACHC
MMACHC 		metabolism of cobalamin associated C 0.644 0.615 1.1E-13
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 1
Entrez Id: 9711
Gene Symbol: RUBCN
RUBCN 		rubicon autophagy regulator 0.716 0.423 1.4E-13
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 2
Entrez Id: 56006
Gene Symbol: SMG9
SMG9 		SMG9 nonsense mediated mRNA decay factor 0.729 0.346 3.5E-13
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.110 None 1.000 1 2 2016 2019
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