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: 60
Gene Symbol: ACTB
ACTB
actin beta 0.325 0.923 0.99
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.300 None 1.000 1 0 2012 2012
Entrez Id: 6913
Gene Symbol: TBX15
TBX15
T-box transcription factor 15 0.603 0.500 0.66
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.300 None 1.000 1 0 2008 2008
Entrez Id: 57167
Gene Symbol: SALL4
SALL4
spalt like transcription factor 4 0.489 0.769 1.00
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.300 None 1.000 1 0 2006 2006
Entrez Id: 5887
Gene Symbol: RAD23B
RAD23B
RAD23 homolog B, nucleotide excision repair protein 0.638 0.731 1.00
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.300 None 1.000 1 0 2002 2002
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: 5251
Gene Symbol: PHEX
PHEX
phosphate regulating endopeptidase homolog X-linked 0.548 0.808 1.00
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.300 None 1.000 1 0 1991 1991
Entrez Id: 4036
Gene Symbol: LRP2
LRP2
LDL receptor related protein 2 0.491 0.846 1.00
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.300 None 1.000 1 0 2007 2007
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: 4204
Gene Symbol: MECP2
MECP2
methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.300 None 1.000 1 0 2009 2009
Entrez Id: 4322
Gene Symbol: MMP13
MMP13
matrix metallopeptidase 13 0.452 0.923 7.9E-18
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.300 None 1.000 1 0 2007 2007
Entrez Id: 4335
Gene Symbol: MNT
MNT
MAX network transcriptional repressor 0.663 0.615 1.00
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.300 None 1.000 1 0 2004 2004
Entrez Id: 4488
Gene Symbol: MSX2
MSX2
msh homeobox 2 0.539 0.769 0.26
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.320 None 1.000 1 0 1995 2001
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
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
notch receptor 1 0.369 0.885 1.00
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.300 None 1.000 1 0 2007 2007
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: 5156
Gene Symbol: PDGFRA
PDGFRA
platelet derived growth factor receptor alpha 0.415 0.808 1.00
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.310 None 1.000 1 0 2000 2000
Entrez Id: 3954
Gene Symbol: LETM1
LETM1
leucine zipper and EF-hand containing transmembrane protein 1 0.545 0.692 1.2E-06
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.300 None 1.000 1 0 2004 2004
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: 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: 4000
Gene Symbol: LMNA
LMNA
lamin A/C 0.384 0.885 1.00
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.320 None 1.000 1 0 2005 2012
Entrez Id: 6259
Gene Symbol: RYK
RYK
receptor like tyrosine kinase 0.705 0.423 0.99
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.300 None 1.000 1 0 2000 2000
Entrez Id: 64220
Gene Symbol: STRA6
STRA6
signaling receptor and transporter of retinol STRA6 0.597 0.731 1.5E-10
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.300 None 1.000 1 0 2008 2008
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: 80146
Gene Symbol: UXS1
UXS1
UDP-glucuronate decarboxylase 1 0.839 0.154 2.9E-03
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.300 None 1.000 1 0 2006 2006
Entrez Id: 80714
Gene Symbol: PBX4
PBX4
PBX homeobox 4 0.839 0.231 5.3E-05
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.300 None 1.000 1 0 2006 2006