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: 2033
Gene Symbol: EP300
EP300
E1A binding protein p300 0.459 0.846 1.00
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 None 0 1
Entrez Id: 2010
Gene Symbol: EMD
EMD
emerin 0.542 0.731 0.93
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 None 0 1
Entrez Id: 1161
Gene Symbol: ERCC8
ERCC8
ERCC excision repair 8, CSA ubiquitin ligase complex subunit 0.551 0.885 2.8E-15
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 None 0 1
Entrez Id: 64097
Gene Symbol: EPB41L4A
EPB41L4A
erythrocyte membrane protein band 4.1 like 4A 0.890 0.231 3.5E-21
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 None 0 1
Entrez Id: 5393
Gene Symbol: EXOSC9
EXOSC9
exosome component 9 0.705 0.423 1.8E-11
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 None 0 1
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
forkhead box G1 0.522 0.692 0.94
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 None 0 1
Entrez Id: 2782
Gene Symbol: GNB1
GNB1
G protein subunit beta 1 0.617 0.731 1.00
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 None 1.000 1 3 2016 2016
Entrez Id: 57459
Gene Symbol: GATAD2B
GATAD2B
GATA zinc finger domain containing 2B 0.593 0.654 1.00
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 None 0 1
Entrez Id: 51053
Gene Symbol: GMNN
GMNN
geminin DNA replication inhibitor 0.554 0.808 0.11
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 None 1.000 1 1 2015 2015
Entrez Id: 2548
Gene Symbol: GAA
GAA
glucosidase alpha, acid 0.631 0.577 2.8E-18
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 None 1.000 1 1 2015 2015
Entrez Id: 2629
Gene Symbol: GBA
GBA
glucosylceramidase beta 0.500 0.808 1.4E-06
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 None 0 1
Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1
HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 0.534 0.769 1.00
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 None 0 1
Entrez Id: 3508
Gene Symbol: IGHMBP2
IGHMBP2
immunoglobulin mu DNA binding protein 2 0.636 0.615 3.0E-16
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 None 0 1
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
interferon induced with helicase C domain 1 0.471 0.808 7.0E-44
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 None 0 1
Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL
interferon regulatory factor 2 binding protein like 0.631 0.462 0.84
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
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: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 None 1.000 1 1 2017 2017
Entrez Id: 122961
Gene Symbol: ISCA2
ISCA2
iron-sulfur cluster assembly 2 0.743 0.231 2.4E-08
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 None 0 1
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
KRAS proto-oncogene, GTPase 0.320 0.923 7.9E-04
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 None 1.000 3 2 2006 2011
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
lysine methyltransferase 2A 0.410 0.885 1.00
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 None 0 1
Entrez Id: 4191
Gene Symbol: MDH2
MDH2
malate dehydrogenase 2 0.595 0.731 6.7E-03
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 None 1.000 1 2 2017 2017
Entrez Id: 11253
Gene Symbol: MAN1B1
MAN1B1
mannosidase alpha class 1B member 1 0.606 0.577 1.2E-08
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 None 0 1
Entrez Id: 4285
Gene Symbol: MIPEP
MIPEP
mitochondrial intermediate peptidase 0.666 0.615 1.6E-15
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 None 0 1
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
mitofusin 2 0.471 0.846 0.99
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 None 0 1
Entrez Id: 4604
Gene Symbol: MYBPC1
MYBPC1
myosin binding protein C1 0.666 0.462 4.8E-05
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 None 0 1
Entrez Id: 10577
Gene Symbol: NPC2
NPC2
NPC intracellular cholesterol transporter 2 0.612 0.769 1.8E-03
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 None 0 2