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: 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: 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: 3166
Gene Symbol: HMX1
HMX1
H6 family homeobox 1 0.729 0.346 0.73
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.320 strong 1.000 1 0 1997 2020
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2
elongation factor Tu GTP binding domain containing 2 0.647 0.462 1.00
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.410 strong 1.000 1 0 1997 2013
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: 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: 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: 23594
Gene Symbol: ORC6
ORC6
origin recognition complex subunit 6 0.628 0.577 3.4E-07
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.400 strong 1.000 1 0 1994 1994
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: 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: 2121
Gene Symbol: EVC
EVC
EvC ciliary complex subunit 1 0.587 0.577 3.5E-25
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.310 limited 1.000 0 0 2014 2014
Entrez Id: 653
Gene Symbol: BMP5
BMP5
bone morphogenetic protein 5 0.653 0.577 9.0E-04
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.310 limited 1.000 0 0 2009 2009
Entrez Id: 10262
Gene Symbol: SF3B4
SF3B4
splicing factor 3b subunit 4 0.576 0.615 0.99
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.400 strong 1.000 1 0 2014 2014
Entrez Id: 145258
Gene Symbol: GSC
GSC
goosecoid homeobox 0.631 0.615 1.4E-02
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.310 strong 1.000 1 0 1997 2009
Entrez Id: 2773
Gene Symbol: GNAI3
GNAI3
G protein subunit alpha i3 0.653 0.615 3.8E-02
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.300 strong 1.000 1 0 1994 1994
Entrez Id: 9533
Gene Symbol: POLR1C
POLR1C
RNA polymerase I and III subunit C 0.595 0.615 6.3E-10
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.400 strong 1.000 1 0 1998 1998
Entrez Id: 4998
Gene Symbol: ORC1
ORC1
origin recognition complex subunit 1 0.595 0.654 1.7E-14
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.400 strong 1.000 1 0 1996 1996
Entrez Id: 5000
Gene Symbol: ORC4
ORC4
origin recognition complex subunit 4 0.612 0.654 7.6E-13
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.400 strong 1.000 1 0 1998 1998
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: 51082
Gene Symbol: POLR1D
POLR1D
RNA polymerase I and III subunit D 0.603 0.692 0.36
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.400 strong 1.000 1 0 1996 1996
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: 6495
Gene Symbol: SIX1
SIX1
SIX homeobox 1 0.496 0.692 0.65
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.400 strong 1.000 1 0 1998 1998
Entrez Id: 2138
Gene Symbol: EYA1
EYA1
EYA transcriptional coactivator and phosphatase 1 0.531 0.731 0.95
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.400 strong 1.000 1 0 1998 1998
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: 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