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: 1280
Gene Symbol: COL2A1
COL2A1
collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.300 None 1.000 2 0 1997 2004
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
patched 1 0.398 0.885 1.00
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.300 None 1.000 2 0 2006 2008
Entrez Id: 317
Gene Symbol: APAF1
APAF1
apoptotic peptidase activating factor 1 0.525 0.769 9.6E-06
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.300 None 1.000 2 0 1998 1998
Entrez Id: 1909
Gene Symbol: EDNRA
EDNRA
endothelin receptor type A 0.426 0.885 0.99
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.300 None 1.000 2 0 1998 2007
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
FMRP translational regulator 1 0.473 0.769 0.65
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.300 None 1.000 2 0 2006 2011
Entrez Id: 2303
Gene Symbol: FOXC2
FOXC2
forkhead box C2 0.515 0.731 0.13
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.300 None 1.000 2 0 1997 1997
Entrez Id: 4313
Gene Symbol: MMP2
MMP2
matrix metallopeptidase 2 0.333 0.923 0.84
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.300 None 1.000 2 0 2007 2007
Entrez Id: 4088
Gene Symbol: SMAD3
SMAD3
SMAD family member 3 0.415 0.923 0.80
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.300 None 1.000 2 0 2004 2011
Entrez Id: 5308
Gene Symbol: PITX2
PITX2
paired like homeodomain 2 0.489 0.808 0.98
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.300 None 1.000 2 0 1999 2003
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1
KAT8 regulatory NSL complex subunit 1 0.592 0.731 1.00
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.300 None 1.000 2 0 2012 2012
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
transforming growth factor beta receptor 2 0.413 0.846 0.13
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.300 None 1.000 2 0 2006 2006
Entrez Id: 4087
Gene Symbol: SMAD2
SMAD2
SMAD family member 2 0.456 0.808 1.00
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.300 None 1.000 2 0 1998 2004
Entrez Id: 7020
Gene Symbol: TFAP2A
TFAP2A
transcription factor AP-2 alpha 0.488 0.769 0.99
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.300 None 1.000 2 0 2003 2009
Entrez Id: 3714
Gene Symbol: JAG2
JAG2
jagged canonical Notch ligand 2 0.576 0.846 1.00
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.300 None 1.000 1 0 1998 1998
Entrez Id: 6497
Gene Symbol: SKI
SKI
SKI proto-oncogene 0.503 0.808 1.00
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.300 None 1.000 1 0 1997 1997
Entrez Id: 3664
Gene Symbol: IRF6
IRF6
interferon regulatory factor 6 0.486 0.769 1.00
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.300 None 1.000 1 0 2006 2006
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586
KIAA0586 0.565 0.731 5.1E-16
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.300 None 1.000 1 0 2004 2004
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
G protein subunit alpha q 0.516 0.808 0.98
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.300 None 1.000 1 0 1998 1998
Entrez Id: 2812
Gene Symbol: GP1BB
GP1BB
glycoprotein Ib platelet subunit beta 0.524 0.769 0.51
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.300 None 1.000 1 0 2004 2004
Entrez Id: 3418
Gene Symbol: IDH2
IDH2
isocitrate dehydrogenase (NADP(+)) 2 0.434 0.808 0.88
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.300 None 1.000 1 0 2016 2016
Entrez Id: 285590
Gene Symbol: SH3PXD2B
SH3PXD2B
SH3 and PX domains 2B 0.631 0.577 4.2E-03
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.300 None 1.000 1 0 2009 2009
Entrez Id: 3211
Gene Symbol: HOXB1
HOXB1
homeobox B1 0.633 0.538 8.2E-02
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.300 None 1.000 1 0 1999 1999
Entrez Id: 286077
Gene Symbol: FAM83H
FAM83H
family with sequence similarity 83 member H 0.686 0.269 0.89
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.300 None 1.000 1 0 2009 2009
Entrez Id: 78989
Gene Symbol: COLEC11
COLEC11
collectin subfamily member 11 0.641 0.654 1.8E-02
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.300 None 1.000 1 0 2011 2011
Entrez Id: 29927
Gene Symbol: SEC61A1
SEC61A1
SEC61 translocon subunit alpha 1 0.722 0.500 0.99
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.300 None 1.000 1 0 2006 2006