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: 80311
Gene Symbol: KLHL15
KLHL15 		kelch like family member 15 0.805 0.192 0.99
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
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: 85300
Gene Symbol: ATCAY
ATCAY 		ATCAY kinesin light chain interacting caytaxin 0.805 0.192 0.62
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
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: 341208
Gene Symbol: HEPHL1
HEPHL1 		hephaestin like 1 0.792 0.231 1.1E-34
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 54872
Gene Symbol: PIGG
PIGG 		phosphatidylinositol glycan anchor biosynthesis class G 0.792 0.231 5.4E-15
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
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: 81689
Gene Symbol: ISCA1
ISCA1 		iron-sulfur cluster assembly 1 0.792 0.231 0.17
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: 8812
Gene Symbol: CCNK
CCNK 		cyclin K 0.792 0.231 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
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: 388662
Gene Symbol: SLC6A17
SLC6A17 		solute carrier family 6 member 17 0.780 0.308 0.50
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 83480
Gene Symbol: PUS3
PUS3 		pseudouridine synthase 3 0.780 0.346 1.4E-08
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.400 strong 1.000 0 0 2016 2016
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: 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: 171568
Gene Symbol: POLR3H
POLR3H 		RNA polymerase III subunit H 0.769 0.346 6.0E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 2
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: 27247
Gene Symbol: NFU1
NFU1 		NFU1 iron-sulfur cluster scaffold 0.769 0.231 4.1E-06
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 51109
Gene Symbol: RDH11
RDH11 		retinol dehydrogenase 11 0.769 0.346 1.1E-07
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 51244
Gene Symbol: CCDC174
CCDC174 		coiled-coil domain containing 174 0.769 0.269 7.1E-08
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 54517
Gene Symbol: PUS7
PUS7 		pseudouridine synthase 7 0.769 0.308 1.3E-09
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 57570
Gene Symbol: TRMT5
TRMT5 		tRNA methyltransferase 5 0.769 0.231 5.0E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
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: 6809
Gene Symbol: STX3
STX3 		syntaxin 3 0.769 0.423 4.1E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
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