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: 3199
Gene Symbol: HOXA2
HOXA2
homeobox A2 0.700 0.385 0.20
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.450 None 1.000 5 0 2008 2017
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 3 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 2 0 1997 2013
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 2 0 1997 2009
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: 6949
Gene Symbol: TCOF1
TCOF1
treacle ribosome biogenesis factor 1 0.550 0.808 0.95
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.400 strong 1.000 1 0 1998 1998
Entrez Id: 7020
Gene Symbol: TFAP2A
TFAP2A
transcription factor AP-2 alpha 0.488 0.769 0.99
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.400 strong 1.000 1 0 1996 1996
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: 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: 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: 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: 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: 8085
Gene Symbol: KMT2D
KMT2D
lysine methyltransferase 2D 0.465 0.808 1.00
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.300 strong 1.000 1 0 1997 1997
Entrez Id: 81620
Gene Symbol: CDT1
CDT1
chromatin licensing and DNA replication factor 1 0.597 0.731 2.6E-10
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.400 strong 1.000 1 0 2004 2004
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: 406985
Gene Symbol: MIR200C
MIR200C
microRNA 200c 0.486 0.846
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.010 None 1.000 1 0 2015 2015
Entrez Id: 406986
Gene Symbol: MIR203A
MIR203A
microRNA 203a 0.471 0.808
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.010 None 1.000 1 0 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: 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: 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: 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: 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: 6223
Gene Symbol: RPS19
RPS19
ribosomal protein S19 0.480 0.846 0.92
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.010 None 1.000 1 0 2001 2001
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: 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