Source: INFERRED

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: 71
Gene Symbol: ACTG1
ACTG1
actin gamma 1 0.477 0.846 4.8E-03
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease 0.410 strong 1.000 0 0 1996 2014
Entrez Id: 58499
Gene Symbol: ZNF462
ZNF462
zinc finger protein 462 0.711 0.462 1.00
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease 0.400 strong 1.000 0 1 2003 2003
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 0 0 2003 2019
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 0 1 2013 2014
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 0 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 0 0 2013 2013
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 0 1 1997 2006
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 4 4 2002 2016
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 0 0 2002 2002
Entrez Id: 11232
Gene Symbol: POLG2
POLG2
DNA polymerase gamma 2, accessory subunit 0.558 0.769 1.5E-10
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease 0.110 None 1.000 0 0 2010 2010
Entrez Id: 7862
Gene Symbol: BRPF1
BRPF1
bromodomain and PHD finger containing 1 0.686 0.385 1.00
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease 0.110 None 1.000 0 0 2017 2017
Entrez Id: 4574
Gene Symbol: TRNS1
TRNS1
tRNA 0.555 0.808
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease 0.110 None 1.000 0 0 2016 2016
Entrez Id: 285489
Gene Symbol: DOK7
DOK7
docking protein 7 0.615 0.615 1.0E-04
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease 0.110 None 1.000 0 0 2010 2010
Entrez Id: 8106
Gene Symbol: PABPN1
PABPN1
poly(A) binding protein nuclear 1 0.674 0.423 0.39
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease 0.110 None 1.000 0 0 2005 2005
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 0 0 2008 2008
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 0 0 2014 2014
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 0 0 2010 2010
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 0 0 2018 2018
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 0 0 2018 2018
Entrez Id: 1890
Gene Symbol: TYMP
TYMP
thymidine phosphorylase 0.495 0.769 1.2E-04
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease 0.110 None 1.000 0 0 2017 2017
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 0 0 2017 2017
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 0 2 2016 2016
Entrez Id: 10939
Gene Symbol: AFG3L2
AFG3L2
AFG3 like matrix AAA peptidase subunit 2 0.588 0.462 5.3E-09
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease 0.110 None 1.000 0 0 2014 2014
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 0 0 2017 2017
Entrez Id: 246329
Gene Symbol: STAC3
STAC3
SH3 and cysteine rich domain 3 0.633 0.654 1.7E-04
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease 0.110 None 1.000 0 0 2017 2017