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: 1890
Gene Symbol: TYMP
TYMP
thymidine phosphorylase 0.495 0.769 1.2E-04
CUI: C0033377
Disease: Ptosis
Ptosis
disease 0.110 None 1.000 1 0 2017 2017
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
NIPBL cohesin loading factor 0.521 0.808 1.00
CUI: C0033377
Disease: Ptosis
Ptosis
disease 0.110 None 1.000 1 0 2006 2006
Entrez Id: 10736
Gene Symbol: SIX2
SIX2
SIX homeobox 2 0.604 0.654 0.94
CUI: C0033377
Disease: Ptosis
Ptosis
disease 0.110 None 1.000 1 0 2016 2016
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
paired box 6 0.450 0.769 1.00
CUI: C0033377
Disease: Ptosis
Ptosis
disease 0.110 None 1.000 1 0 2013 2013
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
tubulin beta 3 class III 0.486 0.808 2.6E-10
CUI: C0033377
Disease: Ptosis
Ptosis
disease 0.110 None 1.000 1 0 2014 2014
Entrez Id: 9997
Gene Symbol: SCO2
SCO2
synthesis of cytochrome C oxidase 2 0.479 0.846 7.5E-07
CUI: C0033377
Disease: Ptosis
Ptosis
disease 0.110 None 1.000 1 0 2017 2017
Entrez Id: 246329
Gene Symbol: STAC3
STAC3
SH3 and cysteine rich domain 3 0.633 0.654 1.7E-04
CUI: C0033377
Disease: Ptosis
Ptosis
disease 0.110 None 1.000 1 1 2017 2017
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C0033377
Disease: Ptosis
Ptosis
disease 0.110 None < 0.001 1 2 2008 2008
Entrez Id: 1763
Gene Symbol: DNA2
DNA2
DNA replication helicase/nuclease 2 0.626 0.731 1.3E-18
CUI: C0033377
Disease: Ptosis
Ptosis
disease 0.110 None 1.000 1 0 2017 2017
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
collagen type III alpha 1 chain 0.477 0.808 1.00
CUI: C0033377
Disease: Ptosis
Ptosis
disease 0.110 None 1.000 1 0 2007 2007
Entrez Id: 5889
Gene Symbol: RAD51C
RAD51C
RAD51 paralog C 0.533 0.692 6.2E-14
CUI: C0033377
Disease: Ptosis
Ptosis
disease 0.100 None 0 0
Entrez Id: 5906
Gene Symbol: RAP1A
RAP1A
RAP1A, member of RAS oncogene family 0.502 0.808 0.62
CUI: C0033377
Disease: Ptosis
Ptosis
disease 0.100 None 0 0
Entrez Id: 5908
Gene Symbol: RAP1B
RAP1B
RAP1B, member of RAS oncogene family 0.565 0.769 0.91
CUI: C0033377
Disease: Ptosis
Ptosis
disease 0.100 None 0 0
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
Raf-1 proto-oncogene, serine/threonine kinase 0.418 0.885 0.85
CUI: C0033377
Disease: Ptosis
Ptosis
disease 0.100 None 0 0
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
receptor associated protein of the synapse 0.593 0.731 1.5E-03
CUI: C0033377
Disease: Ptosis
Ptosis
disease 0.100 None 0 0
Entrez Id: 5922
Gene Symbol: RASA2
RASA2
RAS p21 protein activator 2 0.579 0.769 7.4E-31
CUI: C0033377
Disease: Ptosis
Ptosis
disease 0.100 None 0 0
Entrez Id: 5885
Gene Symbol: RAD21
RAD21
RAD21 cohesin complex component 0.528 0.846 1.00
CUI: C0033377
Disease: Ptosis
Ptosis
disease 0.100 None 0 0
Entrez Id: 57003
Gene Symbol: CCDC47
CCDC47
coiled-coil domain containing 47 0.678 0.462 6.1E-08
CUI: C0033377
Disease: Ptosis
Ptosis
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: C0033377
Disease: Ptosis
Ptosis
disease 0.100 None 0 0
Entrez Id: 57190
Gene Symbol: SELENON
SELENON
selenoprotein N 0.575 0.692 9.8E-10
CUI: C0033377
Disease: Ptosis
Ptosis
disease 0.100 None 0 0
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0033377
Disease: Ptosis
Ptosis
disease 0.100 None 0 0
Entrez Id: 57167
Gene Symbol: SALL4
SALL4
spalt like transcription factor 4 0.489 0.769 1.00
CUI: C0033377
Disease: Ptosis
Ptosis
disease 0.100 None 0 0
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
AT-rich interaction domain 1B 0.503 0.846 1.00
CUI: C0033377
Disease: Ptosis
Ptosis
disease 0.100 None 0 0
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A
coiled-coil and C2 domain containing 2A 0.532 0.692 1.7E-27
CUI: C0033377
Disease: Ptosis
Ptosis
disease 0.100 None 0 0
Entrez Id: 57688
Gene Symbol: ZSWIM6
ZSWIM6
zinc finger SWIM-type containing 6 0.626 0.577 1.00
CUI: C0033377
Disease: Ptosis
Ptosis
disease 0.100 None 0 0