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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 56172
Gene Symbol: ANKH
ANKH
ANKH inorganic pyrophosphate transport regulator 0.606 0.692 0.28
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.300 None 1.000 1 0 2007 2007
Entrez Id: 5648
Gene Symbol: MASP1
MASP1
mannan binding lectin serine peptidase 1 0.565 0.885 1.2E-11
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.300 None 1.000 1 0 2011 2011
Entrez Id: 8720
Gene Symbol: MBTPS1
MBTPS1
membrane bound transcription factor peptidase, site 1 0.532 0.692 7.6E-09
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.300 None 1.000 1 0 2006 2006
Entrez Id: 54796
Gene Symbol: BNC2
BNC2
basonuclin 2 0.612 0.615 0.93
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.300 None 1.000 1 0 2009 2009
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: 546
Gene Symbol: ATRX
ATRX
ATRX chromatin remodeler 0.452 0.808 1.00
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.300 None 1.000 1 0 2009 2009
Entrez Id: 5077
Gene Symbol: PAX3
PAX3
paired box 3 0.481 0.769 0.24
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.300 None 1.000 1 0 2003 2003
Entrez Id: 54499
Gene Symbol: TMCO1
TMCO1
transmembrane and coiled-coil domains 1 0.588 0.654 9.4E-10
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.300 None 1.000 1 0 2010 2010
Entrez Id: 85416
Gene Symbol: ZIC5
ZIC5
Zic family member 5 0.711 0.231 0.77
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.300 None 1.000 1 0 2004 2004
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
SMAD family member 4 0.401 0.808 1.00
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.300 None 1.000 1 0 2011 2011
Entrez Id: 93986
Gene Symbol: FOXP2
FOXP2
forkhead box P2 0.545 0.808 1.00
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.300 None 1.000 1 0 2006 2006
Entrez Id: 4591
Gene Symbol: TRIM37
TRIM37
tripartite motif containing 37 0.610 0.654 9.7E-12
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.300 None 1.000 1 0 2004 2004