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: 7291
Gene Symbol: TWIST1
TWIST1
twist family bHLH transcription factor 1 0.397 0.846 0.34
CUI: C0175699
Disease: Saethre-Chotzen Syndrome
Saethre-Chotzen Syndrome
disease 1.000 strong 0.986 72 20 1995 2019
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C0175699
Disease: Saethre-Chotzen Syndrome
Saethre-Chotzen Syndrome
disease 0.740 strong 1.000 12 12 1997 2016
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.391 0.846 1.6E-05
CUI: C0175699
Disease: Saethre-Chotzen Syndrome
Saethre-Chotzen Syndrome
disease 0.410 None 1.000 1 1 2015 2015
Entrez Id: 4760
Gene Symbol: NEUROD1
NEUROD1
neuronal differentiation 1 0.543 0.808 0.77
CUI: C0175699
Disease: Saethre-Chotzen Syndrome
Saethre-Chotzen Syndrome
disease 0.050 None 1.000 5 0 1997 2018
Entrez Id: 6938
Gene Symbol: TCF12
TCF12
transcription factor 12 0.565 0.654 0.68
CUI: C0175699
Disease: Saethre-Chotzen Syndrome
Saethre-Chotzen Syndrome
disease 0.030 None 1.000 3 0 2015 2019
Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
RUNX family transcription factor 2 0.437 0.846 0.95
CUI: C0175699
Disease: Saethre-Chotzen Syndrome
Saethre-Chotzen Syndrome
disease 0.020 None 1.000 2 0 2005 2018
Entrez Id: 1947
Gene Symbol: EFNB1
EFNB1
ephrin B1 0.561 0.769 0.93
CUI: C0175699
Disease: Saethre-Chotzen Syndrome
Saethre-Chotzen Syndrome
disease 0.020 None 1.000 2 0 2018 2019
Entrez Id: 3342
Gene Symbol: HTC2
HTC2
hypertrichosis 2 (generalized, congenital) 0.392 0.808
CUI: C0175699
Disease: Saethre-Chotzen Syndrome
Saethre-Chotzen Syndrome
disease 0.020 None 1.000 2 0 2012 2013
Entrez Id: 632
Gene Symbol: BGLAP
BGLAP
bone gamma-carboxyglutamate protein 0.462 0.846 4.6E-08
CUI: C0175699
Disease: Saethre-Chotzen Syndrome
Saethre-Chotzen Syndrome
disease 0.020 None 1.000 2 0 2001 2005
Entrez Id: 6696
Gene Symbol: SPP1
SPP1
secreted phosphoprotein 1 0.353 0.885 2.1E-06
CUI: C0175699
Disease: Saethre-Chotzen Syndrome
Saethre-Chotzen Syndrome
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 79594
Gene Symbol: MUL1
MUL1
mitochondrial E3 ubiquitin protein ligase 1 0.473 0.808 1.9E-06
CUI: C0175699
Disease: Saethre-Chotzen Syndrome
Saethre-Chotzen Syndrome
disease 0.010 None 1.000 1 0 2006 2006
Entrez Id: 79602
Gene Symbol: ADIPOR2
ADIPOR2
adiponectin receptor 2 0.564 0.731 0.36
CUI: C0175699
Disease: Saethre-Chotzen Syndrome
Saethre-Chotzen Syndrome
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 835
Gene Symbol: CASP2
CASP2
caspase 2 0.565 0.731 1.5E-03
CUI: C0175699
Disease: Saethre-Chotzen Syndrome
Saethre-Chotzen Syndrome
disease 0.010 None 1.000 1 0 2002 2002
Entrez Id: 836
Gene Symbol: CASP3
CASP3
caspase 3 0.351 0.923 0.10
CUI: C0175699
Disease: Saethre-Chotzen Syndrome
Saethre-Chotzen Syndrome
disease 0.010 None 1.000 1 0 2014 2014
Entrez Id: 842
Gene Symbol: CASP9
CASP9
caspase 9 0.458 0.808 7.4E-06
CUI: C0175699
Disease: Saethre-Chotzen Syndrome
Saethre-Chotzen Syndrome
disease 0.010 None 1.000 1 0 2014 2014
Entrez Id: 9464
Gene Symbol: HAND2
HAND2
heart and neural crest derivatives expressed 2 0.612 0.500 0.40
CUI: C0175699
Disease: Saethre-Chotzen Syndrome
Saethre-Chotzen Syndrome
disease 0.010 None 1.000 1 0 2005 2005
Entrez Id: 10631
Gene Symbol: POSTN
POSTN
periostin 0.428 0.885 1.1E-09
CUI: C0175699
Disease: Saethre-Chotzen Syndrome
Saethre-Chotzen Syndrome
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 6098
Gene Symbol: ROS1
ROS1
ROS proto-oncogene 1, receptor tyrosine kinase 0.439 0.885 1.6E-72
CUI: C0175699
Disease: Saethre-Chotzen Syndrome
Saethre-Chotzen Syndrome
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 5294
Gene Symbol: PIK3CG
PIK3CG
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma 0.320 0.885 1.4E-06
CUI: C0175699
Disease: Saethre-Chotzen Syndrome
Saethre-Chotzen Syndrome
disease 0.010 None 1.000 1 0 2006 2006
Entrez Id: 158506
Gene Symbol: CBLL2
CBLL2
Cbl proto-oncogene like 2 0.476 0.808
CUI: C0175699
Disease: Saethre-Chotzen Syndrome
Saethre-Chotzen Syndrome
disease 0.010 None 1.000 1 0 2006 2006
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
fibroblast growth factor receptor 1 0.362 0.885 1.00
CUI: C0175699
Disease: Saethre-Chotzen Syndrome
Saethre-Chotzen Syndrome
disease 0.010 None 1.000 1 0 2015 2015
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
GLI family zinc finger 3 0.436 0.846 1.00
CUI: C0175699
Disease: Saethre-Chotzen Syndrome
Saethre-Chotzen Syndrome
disease 0.010 None 1.000 1 0 1994 1994
Entrez Id: 3952
Gene Symbol: LEP
LEP
leptin 0.349 0.846 0.46
CUI: C0175699
Disease: Saethre-Chotzen Syndrome
Saethre-Chotzen Syndrome
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 4488
Gene Symbol: MSX2
MSX2
msh homeobox 2 0.539 0.769 0.26
CUI: C0175699
Disease: Saethre-Chotzen Syndrome
Saethre-Chotzen Syndrome
disease 0.010 None 1.000 1 0 2000 2000
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
parkin RBR E3 ubiquitin protein ligase 0.431 0.846 6.9E-07
CUI: C0175699
Disease: Saethre-Chotzen Syndrome
Saethre-Chotzen Syndrome
disease 0.010 None 1.000 1 0 2006 2006