Source: BEFREE

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: 2263
Gene Symbol: FGFR2
FGFR2 		fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		disease 0.800 None 0.976 57 10 1994 2019
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1 		twist family bHLH transcription factor 1 0.397 0.846 0.34
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		disease 0.310 None 1.000 1 0 2005 2013
Entrez Id: 2247
Gene Symbol: FGF2
FGF2 		fibroblast growth factor 2 0.383 0.923 1.8E-02
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		disease 0.030 None 1.000 3 0 2001 2007
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		fibroblast growth factor receptor 3 0.391 0.846 1.6E-05
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		disease 0.030 None 1.000 3 1 2007 2013
Entrez Id: 2335
Gene Symbol: FN1
FN1 		fibronectin 1 0.365 0.962 1.4E-03
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		disease 0.020 None 1.000 2 0 1998 2018
Entrez Id: 2255
Gene Symbol: FGF10
FGF10 		fibroblast growth factor 10 0.530 0.692 0.94
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		disease 0.020 None 1.000 2 0 2009 2016
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1 		fibroblast growth factor receptor 1 0.362 0.885 1.00
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		disease 0.020 None 1.000 2 1 1997 2007
Entrez Id: 5979
Gene Symbol: RET
RET 		ret proto-oncogene 0.392 0.885 1.00
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		disease 0.010 None 1.000 1 0 2013 2013
Entrez Id: 650
Gene Symbol: BMP2
BMP2 		bone morphogenetic protein 2 0.432 0.846 0.99
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		disease 0.010 None 1.000 1 0 2016 2016
Entrez Id: 6774
Gene Symbol: STAT3
STAT3 		signal transducer and activator of transcription 3 0.320 0.923 1.00
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		disease 0.010 None 1.000 1 0 2013 2013
Entrez Id: 595
Gene Symbol: CCND1
CCND1 		cyclin D1 0.344 0.923 0.89
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		disease 0.010 None 1.000 1 0 2013 2013
Entrez Id: 5599
Gene Symbol: MAPK8
MAPK8 		mitogen-activated protein kinase 8 0.397 0.885 1.00
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		disease 0.010 None 1.000 1 0 2012 2012
Entrez Id: 5300
Gene Symbol: PIN1
PIN1 		peptidylprolyl cis/trans isomerase, NIMA-interacting 1 0.488 0.769 0.74
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 2258
Gene Symbol: FGF13
FGF13 		fibroblast growth factor 13 0.514 0.808 0.89
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		disease 0.010 None 1.000 1 0 2001 2001
Entrez Id: 2253
Gene Symbol: FGF8
FGF8 		fibroblast growth factor 8 0.507 0.769 0.68
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		disease 0.010 None 1.000 1 0 1995 1995
Entrez Id: 2077
Gene Symbol: ERF
ERF 		ETS2 repressor factor 0.572 0.654 0.99
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		disease 0.010 None 1.000 1 0 2014 2014
Entrez Id: 9965
Gene Symbol: FGF19
FGF19 		fibroblast growth factor 19 0.548 0.615 0.57
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		disease 0.010 None 1.000 1 0 2016 2016