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: 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: 790955
Gene Symbol: UQCC3
UQCC3 		ubiquinol-cytochrome c reductase complex assembly factor 3 0.839 0.038 3.2E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
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: 2464
Gene Symbol: FRA16E
FRA16E 		fragile site, distamycin A type, rare, fra(16)(p12.1) 0.931 0.077
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
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: 54112
Gene Symbol: GPR88
GPR88 		G protein-coupled receptor 88 0.805 0.115 0.75
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 51116
Gene Symbol: MRPS2
MRPS2 		mitochondrial ribosomal protein S2 0.839 0.154 3.1E-07
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
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: 84705
Gene Symbol: GTPBP3
GTPBP3 		GTP binding protein 3, mitochondrial 0.805 0.154 4.2E-09
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 85015
Gene Symbol: USP45
USP45 		ubiquitin specific peptidase 45 0.792 0.154 1.4E-17
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
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: 11133
Gene Symbol: KPTN
KPTN 		kaptin, actin binding protein 0.769 0.192 1.1E-05
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.110 None 1.000 0 0 2015 2015
Entrez Id: 11222
Gene Symbol: MRPL3
MRPL3 		mitochondrial ribosomal protein L3 0.792 0.192 1.3E-12
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
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: 197258
Gene Symbol: FCSK
FCSK 		fucose kinase 0.769 0.192 1.0E-29
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.400 moderate 1.000 0 0 2018 2018
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: 27107
Gene Symbol: ZBTB11
ZBTB11 		zinc finger and BTB domain containing 11 0.805 0.192 3.2E-06
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 51095
Gene Symbol: TRNT1
TRNT1 		tRNA nucleotidyl transferase 1 0.700 0.192 1.6E-04
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.160 None 1.000 0 0 2014 2019
Entrez Id: 55084
Gene Symbol: SOBP
SOBP 		sine oculis binding protein homolog 0.839 0.192 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0