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: 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: 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 1 0 2006 2019
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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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