Source: ALL

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: 668
Gene Symbol: FOXL2
FOXL2
forkhead box L2 0.542 0.692 0.88
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease 0.200 None 1.000 16 0 2003 2019
Entrez Id: 55777
Gene Symbol: MBD5
MBD5
methyl-CpG binding domain protein 5 0.581 0.808 1.00
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease 0.090 None 1.000 9 0 2017 2020
Entrez Id: 9904
Gene Symbol: RBM19
RBM19
RNA binding motif protein 19 0.711 0.577 1.7E-12
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease 0.090 None 1.000 9 0 2017 2020
Entrez Id: 6654
Gene Symbol: SOS1
SOS1
SOS Ras/Rac guanine nucleotide exchange factor 1 0.485 0.808 1.00
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease 0.100 None 1.000 5 4 2007 2011
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease 0.110 None 1.000 5 4 2002 2016
Entrez Id: 55605
Gene Symbol: KIF21A
KIF21A
kinesin family member 21A 0.653 0.423 2.9E-08
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease 0.040 None 1.000 4 0 2002 2009
Entrez Id: 9427
Gene Symbol: ECEL1
ECEL1
endothelin converting enzyme like 1 0.638 0.308 4.8E-13
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease 0.130 None 1.000 3 1 2013 2014
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
twist family bHLH transcription factor 1 0.397 0.846 0.34
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease 0.120 None 1.000 2 1 1997 2006
Entrez Id: 4974
Gene Symbol: OMG
OMG
oligodendrocyte myelin glycoprotein 0.716 0.462 0.97
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease 0.020 None 1.000 2 0 2019 2020
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
tubulin beta 3 class III 0.486 0.808 2.6E-10
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease 0.120 None 1.000 2 0 2010 2014
Entrez Id: 56652
Gene Symbol: TWNK
TWNK
twinkle mtDNA helicase 0.516 0.692 3.2E-03
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease 0.120 None 1.000 2 1 2013 2013
Entrez Id: 5617
Gene Symbol: PRL
PRL
prolactin 0.406 0.885 2.9E-07
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 2303
Gene Symbol: FOXC2
FOXC2
forkhead box C2 0.515 0.731 0.13
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease 0.110 None 1.000 1 0 2010 2010
Entrez Id: 79776
Gene Symbol: ZFHX4
ZFHX4
zinc finger homeobox 4 0.743 0.269 1.00
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease 0.010 None 1.000 1 0 2002 2002
Entrez Id: 84617
Gene Symbol: TUBB6
TUBB6
tubulin beta 6 class V 0.686 0.462 1.7E-04
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease 0.110 None 1.000 1 1 2017 2017
Entrez Id: 4566
Gene Symbol: TRNK
TRNK
tRNA 0.608 0.577
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 60
Gene Symbol: ACTB
ACTB
actin beta 0.325 0.923 0.99
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease 0.110 None 1.000 1 0 2014 2014
Entrez Id: 6016
Gene Symbol: RIT1
RIT1
Ras like without CAAX 1 0.527 0.808 0.13
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease 0.110 None 1.000 1 2 2016 2016
Entrez Id: 7084
Gene Symbol: TK2
TK2
thymidine kinase 2 0.585 0.615 3.9E-07
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease 0.110 None 1.000 1 0 2018 2018
Entrez Id: 4574
Gene Symbol: TRNS1
TRNS1
tRNA 0.555 0.808
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease 0.110 None 1.000 1 0 2016 2016
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
contactin associated protein 1 0.554 0.577 3.4E-05
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease 0.100 None 1.000 1 1 2017 2017
Entrez Id: 6949
Gene Symbol: TCOF1
TCOF1
treacle ribosome biogenesis factor 1 0.550 0.808 0.95
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease 0.110 None 1.000 1 0 2002 2002
Entrez Id: 23394
Gene Symbol: ADNP
ADNP
activity dependent neuroprotector homeobox 0.561 0.808 1.00
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease 0.110 None 1.000 1 0 2017 2017
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease 0.110 None < 0.001 1 2 2008 2008
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CREB binding protein 0.428 0.808 1.00
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease 0.110 None 1.000 1 0 2018 2018