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: 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: 1859
Gene Symbol: DYRK1A
DYRK1A
dual specificity tyrosine phosphorylation regulated kinase 1A 0.533 0.769 1.00
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.100 None 0 1
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: 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: 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: 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: 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: 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: 79633
Gene Symbol: FAT4
FAT4
FAT atypical cadherin 4 0.539 0.808 1.00
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.100 None 0 0
Entrez Id: 80204
Gene Symbol: FBXO11
FBXO11
F-box protein 11 0.604 0.692 1.00
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.100 None 0 0
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: 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: 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: 79147
Gene Symbol: FKRP
FKRP
fukutin related protein 0.513 0.731 9.8E-06
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.100 None 0 0
Entrez Id: 2218
Gene Symbol: FKTN
FKTN
fukutin 0.511 0.692 8.7E-07
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.100 None 0 0
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: 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: 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: 2563
Gene Symbol: GABRD
GABRD
gamma-aminobutyric acid type A receptor subunit delta 0.558 0.692 0.99
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.100 None 0 0
Entrez Id: 2623
Gene Symbol: GATA1
GATA1
GATA binding protein 1 0.483 0.808 0.95
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.100 None 0 0
Entrez Id: 2629
Gene Symbol: GBA
GBA
glucosylceramidase beta 0.500 0.808 1.4E-06
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.100 None 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
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
GLI family zinc finger 3 0.436 0.846 1.00
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.100 None 0 0
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