Source: HPO

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: 388962
Gene Symbol: BOLA3
BOLA3 		bolA family member 3 0.760 0.231 0.15
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: 55180
Gene Symbol: LINS1
LINS1 		lines homolog 1 0.691 0.231 2.4E-07
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: 5859
Gene Symbol: QARS1
QARS1 		glutaminyl-tRNA synthetase 1 0.716 0.231 2.7E-13
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.110 None 1.000 0 0 2017 2017
Entrez Id: 63931
Gene Symbol: MRPS14
MRPS14 		mitochondrial ribosomal protein S14 0.805 0.231 1.6E-04
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 64175
Gene Symbol: P3H1
P3H1 		prolyl 3-hydroxylase 1 0.736 0.231 2.3E-20
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 7283
Gene Symbol: TUBG1
TUBG1 		tubulin gamma 1 0.729 0.231 0.13
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
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: 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: 11340
Gene Symbol: EXOSC8
EXOSC8 		exosome component 8 0.736 0.269 6.9E-15
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 167691
Gene Symbol: LCA5
LCA5 		lebercilin LCA5 0.674 0.269 4.1E-05
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 2593
Gene Symbol: GAMT
GAMT 		guanidinoacetate N-methyltransferase 0.691 0.269 9.5E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 50651
Gene Symbol: SLC45A1
SLC45A1 		solute carrier family 45 member 1 0.674 0.269 2.5E-05
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: 55621
Gene Symbol: TRMT1
TRMT1 		tRNA methyltransferase 1 0.821 0.269 1.9E-12
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.400 strong 1.000 0 0 2017 2017
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 0
Entrez Id: 84340
Gene Symbol: GFM2
GFM2 		G elongation factor mitochondrial 2 0.736 0.269 1.5E-18
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 9440
Gene Symbol: MED17
MED17 		mediator complex subunit 17 0.769 0.269 3.1E-09
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 9853
Gene Symbol: RUSC2
RUSC2 		RUN and SH3 domain containing 2 0.729 0.269 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
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 0
Entrez Id: 115286
Gene Symbol: SLC25A26
SLC25A26 		solute carrier family 25 member 26 0.716 0.308 2.6E-07
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 1174
Gene Symbol: AP1S1
AP1S1 		adaptor related protein complex 1 subunit sigma 1 0.743 0.308 1.0E-01
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 122553
Gene Symbol: TRAPPC6B
TRAPPC6B 		trafficking protein particle complex 6B 0.751 0.308 1.5E-04
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 126328
Gene Symbol: NDUFA11
NDUFA11 		NADH:ubiquinone oxidoreductase subunit A11 0.705 0.308 1.8E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0