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: 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: 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: 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: 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: 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: 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: 8575
Gene Symbol: PRKRA
PRKRA
protein activator of interferon induced protein kinase EIF2AK2 0.579 0.615 0.42
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.010 None < 0.001 1 0 2017 2017
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: 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: 10736
Gene Symbol: SIX2
SIX2
SIX homeobox 2 0.604 0.654 0.94
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.010 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: 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: 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: 546
Gene Symbol: ATRX
ATRX
ATRX chromatin remodeler 0.452 0.808 1.00
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.100 None 0 0
Entrez Id: 55252
Gene Symbol: ASXL2
ASXL2
ASXL transcriptional regulator 2 0.617 0.692 1.00
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.100 None 0 1
Entrez Id: 55777
Gene Symbol: MBD5
MBD5
methyl-CpG binding domain protein 5 0.581 0.808 1.00
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.100 None 0 0
Entrez Id: 5058
Gene Symbol: PAK1
PAK1
p21 (RAC1) activated kinase 1 0.494 0.808 1.3E-03
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.100 None 0 0
Entrez Id: 55788
Gene Symbol: LMBRD1
LMBRD1
LMBR1 domain containing 1 0.716 0.385 9.0E-11
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.100 None 0 0
Entrez Id: 56992
Gene Symbol: KIF15
KIF15
kinesin family member 15 0.617 0.654 9.5E-25
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.100 None 0 0
Entrez Id: 5718
Gene Symbol: PSMD12
PSMD12
proteasome 26S subunit, non-ATPase 12 0.578 0.808 1.00
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.100 None 0 0
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: 51099
Gene Symbol: ABHD5
ABHD5
abhydrolase domain containing 5 0.641 0.538 6.4E-07
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: 5116
Gene Symbol: PCNT
PCNT
pericentrin 0.564 0.808 4.0E-58
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.100 None 0 0
Entrez Id: 51025
Gene Symbol: PAM16
PAM16
presequence translocase associated motor 16 0.729 0.462 0.24
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease 0.100 None 0 0