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: 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 1 1998 1998
Entrez Id: 3198
Gene Symbol: HOXA1
HOXA1
homeobox A1 0.575 0.769 0.29
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.010 None 1.000 1 0 2015 2015
Entrez Id: 776
Gene Symbol: CACNA1D
CACNA1D
calcium voltage-gated channel subunit alpha1 D 0.582 0.577 1.00
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 574411
Gene Symbol: MIR451A
MIR451A
microRNA 451a 0.505 0.769
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.010 None 1.000 1 0 2015 2015
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: 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: 574455
Gene Symbol: MIR193B
MIR193B
microRNA 193b 0.536 0.808
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 132884
Gene Symbol: EVC2
EVC2
EvC ciliary complex subunit 2 0.585 0.692 1.0E-34
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.010 None 1.000 1 1 2015 2015
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: 1723
Gene Symbol: DHODH
DHODH
dihydroorotate dehydrogenase (quinone) 0.576 0.769 3.0E-03
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.400 strong 1.000 1 0 2011 2011
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.400 strong 1.000 1 0 2014 2014
Entrez Id: 10736
Gene Symbol: SIX2
SIX2
SIX homeobox 2 0.604 0.654 0.94
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.010 None 1.000 1 0 2010 2010
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: 990
Gene Symbol: CDC6
CDC6
cell division cycle 6 0.552 0.731 1.1E-09
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.400 strong 1.000 1 0 1998 1998
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: 545
Gene Symbol: ATR
ATR
ATR serine/threonine kinase 0.456 0.923 3.5E-09
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.010 None 1.000 1 0 2012 2012
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: 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: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.391 0.846 1.6E-05
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.400 strong 1.000 1 0 2006 2006
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: 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: 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: 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: 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 1 0 2014 2014