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: 6949
Gene Symbol: TCOF1
TCOF1
treacle ribosome biogenesis factor 1 0.550 0.808 0.95
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.350 None 1.000 1 0 2000 2016
Entrez Id: 23314
Gene Symbol: SATB2
SATB2
SATB homeobox 2 0.503 0.769 1.00
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.330 None 1.000 1 0 2006 2019
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.320 None 1.000 3 0 1996 2007
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
T-box transcription factor 1 0.433 0.808 0.84
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.320 None 1.000 2 0 2004 2012
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: 2253
Gene Symbol: FGF8
FGF8
fibroblast growth factor 8 0.507 0.769 0.68
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.320 None 1.000 1 0 1997 2014
Entrez Id: 30813
Gene Symbol: VSX1
VSX1
visual system homeobox 1 0.579 0.692 3.6E-02
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.320 None 1.000 1 0 2004 2012
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: 4487
Gene Symbol: MSX1
MSX1
msh homeobox 1 0.525 0.731 0.17
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.310 None 1.000 4 0 2002 2003
Entrez Id: 1749
Gene Symbol: DLX5
DLX5
distal-less homeobox 5 0.604 0.692 0.22
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.310 None 1.000 3 0 1999 2016
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1
transcriptional repressor GATA binding 1 0.537 0.769 1.00
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.310 None 1.000 2 0 2001 2009
Entrez Id: 4054
Gene Symbol: LTBP3
LTBP3
latent transforming growth factor beta binding protein 3 0.564 0.846 0.69
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.310 None 1.000 2 0 2002 2017
Entrez Id: 3339
Gene Symbol: HSPG2
HSPG2
heparan sulfate proteoglycan 2 0.438 0.885 1.0E-19
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.310 None 1.000 1 0 1999 1999
Entrez Id: 6662
Gene Symbol: SOX9
SOX9
SRY-box transcription factor 9 0.419 0.846 1.00
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.310 None 1.000 1 0 2002 2011
Entrez Id: 2138
Gene Symbol: EYA1
EYA1
EYA transcriptional coactivator and phosphatase 1 0.531 0.731 0.95
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.310 None 1.000 1 0 1999 1999
Entrez Id: 2239
Gene Symbol: GPC4
GPC4
glypican 4 0.547 0.769 0.93
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.310 None 1.000 1 0 2006 2019
Entrez Id: 6495
Gene Symbol: SIX1
SIX1
SIX homeobox 1 0.496 0.692 0.65
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.310 None 1.000 1 0 2003 2019
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: 3340
Gene Symbol: NDST1
NDST1
N-deacetylase and N-sulfotransferase 1 0.608 0.692 1.00
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.310 None 1.000 1 0 2005 2017
Entrez Id: 8626
Gene Symbol: TP63
TP63
tumor protein p63 0.362 0.769 1.00
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.310 None 1.000 1 0 1999 2002
Entrez Id: 9569
Gene Symbol: GTF2IRD1
GTF2IRD1
GTF2I repeat domain containing 1 0.522 0.769 0.90
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.310 None 1.000 1 0 2010 2010
Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
RUNX family transcription factor 2 0.437 0.846 0.95
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.310 None 1.000 1 0 2004 2011
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.300 None 1.000 6 0 1997 2009
Entrez Id: 1906
Gene Symbol: EDN1
EDN1
endothelin 1 0.380 0.846 0.46
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.300 None 1.000 4 0 1994 2010
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
paired box 6 0.450 0.769 1.00
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.300 None 1.000 3 0 1995 1997