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: 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: 5290
Gene Symbol: PIK3CA
PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha 0.292 0.923 1.00
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.100 None 0 0
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: 3313
Gene Symbol: HSPA9
HSPA9
heat shock protein family A (Hsp70) member 9 0.502 0.885 0.97
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.100 None 0 0
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
lysine methyltransferase 2A 0.410 0.885 1.00
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.100 None 0 1
Entrez Id: 55869
Gene Symbol: HDAC8
HDAC8
histone deacetylase 8 0.511 0.885 0.98
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.100 None 0 0
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: 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: 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: 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: 26053
Gene Symbol: AUTS2
AUTS2
activator of transcription and developmental regulator AUTS2 0.569 0.846 1.00
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.100 None 0 1
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: 3190
Gene Symbol: HNRNPK
HNRNPK
heterogeneous nuclear ribonucleoprotein K 0.539 0.846 1.00
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.100 None 0 0
Entrez Id: 473
Gene Symbol: RERE
RERE
arginine-glutamic acid dipeptide repeats 0.526 0.846 1.00
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.100 None 0 0
Entrez Id: 5087
Gene Symbol: PBX1
PBX1
PBX homeobox 1 0.534 0.846 1.00
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.100 None 0 0
Entrez Id: 55835
Gene Symbol: CENPJ
CENPJ
centromere protein J 0.546 0.846 2.1E-27
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.100 None 0 0
Entrez Id: 650
Gene Symbol: BMP2
BMP2
bone morphogenetic protein 2 0.432 0.846 0.99
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.100 None 0 0
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
twist family bHLH transcription factor 1 0.397 0.846 0.34
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.100 None 0 0
Entrez Id: 9469
Gene Symbol: CHST3
CHST3
carbohydrate sulfotransferase 3 0.517 0.846 7.2E-03
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.100 None 0 0
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: 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: 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: 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: 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: 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