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: 2263
Gene Symbol: FGFR2
FGFR2
fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.410 strong 1.000 2 1 2006 2019
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: 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: 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: 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: 6299
Gene Symbol: SALL1
SALL1
spalt like transcription factor 1 0.539 0.808 1.00
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.400 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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 1 0 2009 2009
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
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: 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