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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 6834
Gene Symbol: SURF1
SURF1
SURF1 cytochrome c oxidase assembly factor 0.578 0.654 1.6E-13
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.300 None 1.000 1 0 2006 2006
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: 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