Source: GENOMICS_ENGLAND

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: 10293
Gene Symbol: TRAIP
TRAIP
TRAF interacting protein 0.644 0.654 1.6E-05
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.610 moderate 1.000 0 0 2016 2016
Entrez Id: 7518
Gene Symbol: XRCC4
XRCC4
X-ray repair cross complementing 4 0.528 0.769 8.3E-07
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.440 strong 0.750 1 0 2014 2016
Entrez Id: 25886
Gene Symbol: POC1A
POC1A
POC1 centriolar protein A 0.650 0.500 3.3E-06
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.440 strong 0.800 1 0 2012 2016
Entrez Id: 51574
Gene Symbol: LARP7
LARP7
La ribonucleoprotein 7, transcriptional regulator 0.674 0.615 9.3E-08
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.420 strong 1.000 1 0 2012 2016
Entrez Id: 10785
Gene Symbol: WDR4
WDR4
WD repeat domain 4 0.653 0.538 1.4E-08
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.420 moderate 1.000 1 0 2015 2018
Entrez Id: 26224
Gene Symbol: FBXL3
FBXL3
F-box and leucine rich repeat protein 3 0.736 0.462 0.98
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.410 strong 1.000 1 0 2019 2019
Entrez Id: 9949
Gene Symbol: AMMECR1
AMMECR1
AMMECR nuclear protein 1 0.659 0.692 0.82
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.410 strong 1.000 1 0 2017 2019
Entrez Id: 51053
Gene Symbol: GMNN
GMNN
geminin DNA replication inhibitor 0.554 0.808 0.11
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.410 strong 1.000 1 0 2015 2015
Entrez Id: 345895
Gene Symbol: RSPH4A
RSPH4A
radial spoke head component 4A 0.666 0.538 7.6E-11
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.400 None 1.000 1 0 2015 2015
Entrez Id: 9775
Gene Symbol: EIF4A3
EIF4A3
eukaryotic translation initiation factor 4A3 0.608 0.500 1.00
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.400 strong 1.000 1 0 1998 1998
Entrez Id: 54517
Gene Symbol: PUS7
PUS7
pseudouridine synthase 7 0.769 0.308 1.3E-09
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.400 strong 1.000 1 0 2018 2018
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4
ERCC excision repair 4, endonuclease catalytic subunit 0.468 0.846 1.4E-12
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.400 strong 0 0
Entrez Id: 3483
Gene Symbol: IGFALS
IGFALS
insulin like growth factor binding protein acid labile subunit 0.511 0.846 5.4E-11
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.350 None 1.000 1 0 2004 2020
Entrez Id: 51780
Gene Symbol: KDM3B
KDM3B
lysine demethylase 3B 0.686 0.500 1.00
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.310 moderate 1.000 1 0 2019 2019
Entrez Id: 9922
Gene Symbol: IQSEC1
IQSEC1
IQ motif and Sec7 domain ArfGEF 1 0.736 0.346 1.00
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.310 moderate 1.000 1 0 2019 2019
Entrez Id: 6514
Gene Symbol: SLC2A2
SLC2A2
solute carrier family 2 member 2 0.572 0.692 3.4E-08
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.300 strong 1.000 1 0 2012 2012
Entrez Id: 84068
Gene Symbol: SLC10A7
SLC10A7
solute carrier family 10 member 7 0.711 0.269 2.0E-05
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.300 strong 1.000 1 0 2018 2018