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: 5332
Gene Symbol: PLCB4
PLCB4
phospholipase C beta 4 0.610 0.731 3.0E-06
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.300 strong 1.000 1 0 2012 2012
Entrez Id: 9775
Gene Symbol: EIF4A3
EIF4A3
eukaryotic translation initiation factor 4A3 0.608 0.500 1.00
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.300 strong 1.000 1 0 1998 1998
Entrez Id: 57045
Gene Symbol: TWSG1
TWSG1
twisted gastrulation BMP signaling modulator 1 0.621 0.692 6.1E-03
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.300 limited 1.000 1 0 2001 2001
Entrez Id: 341640
Gene Symbol: FREM2
FREM2
FRAS1 related extracellular matrix 2 0.566 0.577 3.6E-11
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.300 strong 1.000 1 0 2005 2005
Entrez Id: 579
Gene Symbol: NKX3-2
NKX3-2
NK3 homeobox 2 0.736 0.308 0.64
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.300 limited 1.000 1 0 1997 1997
Entrez Id: 23592
Gene Symbol: LEMD3
LEMD3
LEM domain containing 3 0.582 0.731 1.00
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.300 limited 1.000 1 0 1997 1997
Entrez Id: 23426
Gene Symbol: GRIP1
GRIP1
glutamate receptor interacting protein 1 0.581 0.769 0.51
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.300 strong 1.000 1 0 2006 2006
Entrez Id: 1909
Gene Symbol: EDNRA
EDNRA
endothelin receptor type A 0.426 0.885 0.99
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.300 strong 1.000 1 0 2010 2010
Entrez Id: 5015
Gene Symbol: OTX2
OTX2
orthodenticle homeobox 2 0.514 0.808 0.92
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.300 strong 1.000 1 0 1997 1997
Entrez Id: 147912
Gene Symbol: SIX5
SIX5
SIX homeobox 5 0.666 0.500 6.9E-03
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.300 moderate 1.000 1 0 1999 1999
Entrez Id: 2255
Gene Symbol: FGF10
FGF10
fibroblast growth factor 10 0.530 0.692 0.94
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.300 strong 1.000 1 0 1999 1999
Entrez Id: 80144
Gene Symbol: FRAS1
FRAS1
Fraser extracellular matrix complex subunit 1 0.560 0.577 3.1E-45
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.300 strong 1.000 1 0 1994 1994
Entrez Id: 344167
Gene Symbol: FOXI3
FOXI3
forkhead box I3 0.805 0.308
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.300 limited 0 0
Entrez Id: 392255
Gene Symbol: GDF6
GDF6
growth differentiation factor 6 0.587 0.500 0.99
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.300 moderate 0 0
Entrez Id: 7403
Gene Symbol: KDM6A
KDM6A
lysine demethylase 6A 0.498 0.769 1.00
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.300 strong 0 0
Entrez Id: 11197
Gene Symbol: WIF1
WIF1
WNT inhibitory factor 1 0.507 0.731 1.3E-09
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.300 limited 0 0
Entrez Id: 2248
Gene Symbol: FGF3
FGF3
fibroblast growth factor 3 0.505 0.808 9.3E-05
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.110 None 1.000 1 0 2010 2010
Entrez Id: 51053
Gene Symbol: GMNN
GMNN
geminin DNA replication inhibitor 0.554 0.808 0.11
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.100 None 1.000 1 2 2015 2015
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
fukutin related protein 0.513 0.731 9.8E-06
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.100 None 0 0
Entrez Id: 5718
Gene Symbol: PSMD12
PSMD12
proteasome 26S subunit, non-ATPase 12 0.578 0.808 1.00
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.100 None 0 0
Entrez Id: 6234
Gene Symbol: RPS28
RPS28
ribosomal protein S28 0.716 0.423 0.68
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.100 None 0 0
Entrez Id: 9382
Gene Symbol: COG1
COG1
component of oligomeric golgi complex 1 0.628 0.692 4.9E-08
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.100 None 0 0
Entrez Id: 9215
Gene Symbol: LARGE1
LARGE1
LARGE xylosyl- and glucuronyltransferase 1 0.526 0.654 0.99
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.100 None 0 0
Entrez Id: 90161
Gene Symbol: HS6ST2
HS6ST2
heparan sulfate 6-O-sulfotransferase 2 0.729 0.423 1.0E-03
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.100 None 0 0
Entrez Id: 9652
Gene Symbol: TTC37
TTC37
tetratricopeptide repeat domain 37 0.626 0.654 1.7E-29
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.100 None 0 0