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: 79598
Gene Symbol: CEP97
CEP97 		centrosomal protein 97 1.000 2.0E-11
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 1
Entrez Id: 162461
Gene Symbol: TMEM92
TMEM92 		transmembrane protein 92 0.890 0.038 6.3E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 1
Entrez Id: 93654
Gene Symbol: ST7-AS2
ST7-AS2 		ST7 antisense RNA 2 0.931 0.038
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 1
Entrez Id: 57325
Gene Symbol: KAT14
KAT14 		lysine acetyltransferase 14 0.890 0.077 1.3E-09
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 1
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: 112714
Gene Symbol: TUBA3E
TUBA3E 		tubulin alpha 3e 0.861 0.115 2.0E-08
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 1
Entrez Id: 116461
Gene Symbol: TSEN15
TSEN15 		tRNA splicing endonuclease subunit 15 0.769 0.115 0.28
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.400 moderate 1.000 0 1 2015 2015
Entrez Id: 127343
Gene Symbol: DMBX1
DMBX1 		diencephalon/mesencephalon homeobox 1 0.780 0.115 0.93
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 1
Entrez Id: 83604
Gene Symbol: TMEM47
TMEM47 		transmembrane protein 47 0.821 0.154 0.80
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: 118426
Gene Symbol: BORCS5
BORCS5 		BLOC-1 related complex subunit 5 0.805 0.192 1.2E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 1
Entrez Id: 120534
Gene Symbol: ARL14EP
ARL14EP 		ADP ribosylation factor like GTPase 14 effector protein 0.861 0.192 0.38
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 1
Entrez Id: 25980
Gene Symbol: AAR2
AAR2 		AAR2 splicing factor 0.839 0.192 8.3E-06
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 1
Entrez Id: 7982
Gene Symbol: ST7
ST7 		suppression of tumorigenicity 7 0.743 0.192 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 1
Entrez Id: 90459
Gene Symbol: ERI1
ERI1 		exoribonuclease 1 0.890 0.192 1.2E-05
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 1
Entrez Id: 23059
Gene Symbol: CLUAP1
CLUAP1 		clusterin associated protein 1 0.805 0.231 4.2E-04
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 1.000 1 2 2017 2017
Entrez Id: 122961
Gene Symbol: ISCA2
ISCA2 		iron-sulfur cluster assembly 2 0.743 0.231 2.4E-08
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 1
Entrez Id: 26750
Gene Symbol: RPS6KC1
RPS6KC1 		ribosomal protein S6 kinase C1 0.821 0.231 1.3E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 1
Entrez Id: 92154
Gene Symbol: MTSS2
MTSS2 		MTSS I-BAR domain containing 2 0.839 0.231 0.98
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 1
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1 		nicotinamide nucleotide adenylyltransferase 1 0.656 0.269 3.5E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 1
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 1
Entrez Id: 25930
Gene Symbol: PTPN23
PTPN23 		protein tyrosine phosphatase non-receptor type 23 0.743 0.308 3.1E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 7
Entrez Id: 58538
Gene Symbol: MPP4
MPP4 		membrane palmitoylated protein 4 0.792 0.308 3.4E-18
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 1
Entrez Id: 65117
Gene Symbol: RSRC2
RSRC2 		arginine and serine rich coiled-coil 2 0.769 0.308 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 1
Entrez Id: 6878
Gene Symbol: TAF6
TAF6 		TATA-box binding protein associated factor 6 0.769 0.308 8.3E-09
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 1