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: 1822
Gene Symbol: ATN1
ATN1
atrophin 1 0.409 0.885 1.00
CUI: C0948242
Disease: Nuchal bleb, familial
Nuchal bleb, familial
disease 0.100 None 0 0
Entrez Id: 338
Gene Symbol: APOB
APOB
apolipoprotein B 0.453 0.808 1.9E-16
CUI: C0948242
Disease: Nuchal bleb, familial
Nuchal bleb, familial
disease 0.070 None 1.000 7 0 1998 2008
Entrez Id: 4023
Gene Symbol: LPL
LPL
lipoprotein lipase 0.474 0.808 1.3E-09
CUI: C0948242
Disease: Nuchal bleb, familial
Nuchal bleb, familial
disease 0.060 None 0.833 6 2 1995 2009
Entrez Id: 335
Gene Symbol: APOA1
APOA1
apolipoprotein A1 0.429 0.885 5.5E-04
CUI: C0948242
Disease: Nuchal bleb, familial
Nuchal bleb, familial
disease 0.030 None 1.000 3 0 1996 2014
Entrez Id: 7391
Gene Symbol: USF1
USF1
upstream transcription factor 1 0.592 0.692 2.4E-02
CUI: C0948242
Disease: Nuchal bleb, familial
Nuchal bleb, familial
disease 0.030 None 1.000 3 0 2007 2015
Entrez Id: 116519
Gene Symbol: APOA5
APOA5
apolipoprotein A5 0.587 0.615 5.6E-10
CUI: C0948242
Disease: Nuchal bleb, familial
Nuchal bleb, familial
disease 0.030 None 1.000 3 5 2007 2015
Entrez Id: 345
Gene Symbol: APOC3
APOC3
apolipoprotein C3 0.531 0.731 1.0E-02
CUI: C0948242
Disease: Nuchal bleb, familial
Nuchal bleb, familial
disease 0.020 None 1.000 2 0 1993 1997
Entrez Id: 9370
Gene Symbol: ADIPOQ
ADIPOQ
adiponectin, C1Q and collagen domain containing 0.376 0.885 4.6E-09
CUI: C0948242
Disease: Nuchal bleb, familial
Nuchal bleb, familial
disease 0.020 None 0.500 2 0 1999 2008
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
low density lipoprotein receptor 0.449 0.885 9.8E-24
CUI: C0948242
Disease: Nuchal bleb, familial
Nuchal bleb, familial
disease 0.020 None 1.000 2 0 1998 2008
Entrez Id: 5054
Gene Symbol: SERPINE1
SERPINE1
serpin family E member 1 0.359 0.885 4.4E-02
CUI: C0948242
Disease: Nuchal bleb, familial
Nuchal bleb, familial
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 5444
Gene Symbol: PON1
PON1
paraoxonase 1 0.409 0.885 9.8E-11
CUI: C0948242
Disease: Nuchal bleb, familial
Nuchal bleb, familial
disease 0.010 None 1.000 1 0 2008 2008
Entrez Id: 80350
Gene Symbol: LPAL2
LPAL2
lipoprotein(a) like 2, pseudogene 0.626 0.731
CUI: C0948242
Disease: Nuchal bleb, familial
Nuchal bleb, familial
disease 0.010 None 1.000 1 0 2003 2003
Entrez Id: 7124
Gene Symbol: TNF
TNF
tumor necrosis factor 0.231 0.962 0.80
CUI: C0948242
Disease: Nuchal bleb, familial
Nuchal bleb, familial
disease 0.010 None 1.000 1 0 1999 1999
Entrez Id: 718
Gene Symbol: C3
C3
complement C3 0.445 0.885 0.90
CUI: C0948242
Disease: Nuchal bleb, familial
Nuchal bleb, familial
disease 0.010 None 1.000 1 0 1996 1996
Entrez Id: 10628
Gene Symbol: TXNIP
TXNIP
thioredoxin interacting protein 0.490 0.731 0.16
CUI: C0948242
Disease: Nuchal bleb, familial
Nuchal bleb, familial
disease 0.010 None < 0.001 1 0 2004 2004
Entrez Id: 4353
Gene Symbol: MPO
MPO
myeloperoxidase 0.377 0.923 7.1E-15
CUI: C0948242
Disease: Nuchal bleb, familial
Nuchal bleb, familial
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 3953
Gene Symbol: LEPR
LEPR
leptin receptor 0.433 0.808 0.99
CUI: C0948242
Disease: Nuchal bleb, familial
Nuchal bleb, familial
disease 0.010 None 1.000 1 1 2006 2006
Entrez Id: 3952
Gene Symbol: LEP
LEP
leptin 0.349 0.846 0.46
CUI: C0948242
Disease: Nuchal bleb, familial
Nuchal bleb, familial
disease 0.010 None 1.000 1 0 2005 2005
Entrez Id: 336
Gene Symbol: APOA2
APOA2
apolipoprotein A2 0.582 0.769 4.5E-02
CUI: C0948242
Disease: Nuchal bleb, familial
Nuchal bleb, familial
disease 0.010 None 1.000 1 0 2003 2003
Entrez Id: 27202
Gene Symbol: C5AR2
C5AR2
complement component 5a receptor 2 0.659 0.654 0.25
CUI: C0948242
Disease: Nuchal bleb, familial
Nuchal bleb, familial
disease 0.010 None 1.000 1 1 2011 2011
Entrez Id: 201501
Gene Symbol: ZBTB7C
ZBTB7C
zinc finger and BTB domain containing 7C 0.691 0.577 0.16
CUI: C0948242
Disease: Nuchal bleb, familial
Nuchal bleb, familial
disease 0.010 None 1.000 1 0 1999 1999
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
ATP binding cassette subfamily A member 1 0.467 0.846 1.5E-13
CUI: C0948242
Disease: Nuchal bleb, familial
Nuchal bleb, familial
disease 0.010 None 1.000 1 0 2014 2014
Entrez Id: 1071
Gene Symbol: CETP
CETP
cholesteryl ester transfer protein 0.512 0.731 1.2E-23
CUI: C0948242
Disease: Nuchal bleb, familial
Nuchal bleb, familial
disease 0.010 None 1.000 1 0 2014 2014
Entrez Id: 966
Gene Symbol: CD59
CD59
CD59 molecule (CD59 blood group) 0.469 0.808 0.61
CUI: C0948242
Disease: Nuchal bleb, familial
Nuchal bleb, familial
disease 0.010 None 1.000 1 0 1997 1997