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: 53820
Gene Symbol: RIPPLY3
RIPPLY3 		ripply transcriptional repressor 3 0.839 0.192 8.4E-02
CUI: C0302142
Disease: Deformity
Deformity 		group 0.020 None 0.500 2 0 2011 2018
Entrez Id: 347733
Gene Symbol: TUBB2B
TUBB2B 		tubulin beta 2B class IIb 0.610 0.385 0.99
CUI: C0302142
Disease: Deformity
Deformity 		group 0.020 None 1.000 2 0 2012 2019
Entrez Id: 7490
Gene Symbol: WT1
WT1 		WT1 transcription factor 0.422 0.808 1.00
CUI: C0302142
Disease: Deformity
Deformity 		group 0.020 None 1.000 2 0 1995 2001
Entrez Id: 791121
Gene Symbol: SHFL1
SHFL1 		Split-hand/foot malformation with long bone deficiency 1 1.000 0.038
CUI: C0302142
Disease: Deformity
Deformity 		group 0.020 None 1.000 2 0 2013 2014
Entrez Id: 2077
Gene Symbol: ERF
ERF 		ETS2 repressor factor 0.572 0.654 0.99
CUI: C0302142
Disease: Deformity
Deformity 		group 0.020 None 1.000 2 0 2014 2019
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1 		transcriptional repressor GATA binding 1 0.537 0.769 1.00
CUI: C0302142
Disease: Deformity
Deformity 		group 0.020 None 1.000 2 0 2017 2018
Entrez Id: 7405
Gene Symbol: UVRAG
UVRAG 		UV radiation resistance associated 0.436 0.769 0.99
CUI: C0302142
Disease: Deformity
Deformity 		group 0.020 None 1.000 2 0 2002 2010
Entrez Id: 7422
Gene Symbol: VEGFA
VEGFA 		vascular endothelial growth factor A 0.266 0.923 2.4E-05
CUI: C0302142
Disease: Deformity
Deformity 		group 0.020 None 1.000 2 0 2006 2009
Entrez Id: 170302
Gene Symbol: ARX
ARX 		aristaless related homeobox 0.516 0.654 0.91
CUI: C0302142
Disease: Deformity
Deformity 		group 0.020 None 1.000 2 0 2009 2019
Entrez Id: 7546
Gene Symbol: ZIC2
ZIC2 		Zic family member 2 0.556 0.769 0.97
CUI: C0302142
Disease: Deformity
Deformity 		group 0.020 None 1.000 2 0 2000 2001
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1 		actin gamma 1 0.477 0.846 4.8E-03
CUI: C0302142
Disease: Deformity
Deformity 		group 0.020 None 1.000 2 0 2015 2019
Entrez Id: 5879
Gene Symbol: RAC1
RAC1 		Rac family small GTPase 1 0.429 0.962 0.76
CUI: C0302142
Disease: Deformity
Deformity 		group 0.020 None 1.000 2 0 2018 2019
Entrez Id: 2688
Gene Symbol: GH1
GH1 		growth hormone 1 0.373 0.923 3.0E-02
CUI: C0302142
Disease: Deformity
Deformity 		group 0.020 None 1.000 2 0 2002 2005
Entrez Id: 26585
Gene Symbol: GREM1
GREM1 		gremlin 1, DAN family BMP antagonist 0.508 0.808 0.47
CUI: C0302142
Disease: Deformity
Deformity 		group 0.020 None 1.000 2 0 2018 2019
Entrez Id: 2737
Gene Symbol: GLI3
GLI3 		GLI family zinc finger 3 0.436 0.846 1.00
CUI: C0302142
Disease: Deformity
Deformity 		group 0.020 None 1.000 2 0 2007 2009
Entrez Id: 6648
Gene Symbol: SOD2
SOD2 		superoxide dismutase 2 0.379 0.923 0.15
CUI: C0302142
Disease: Deformity
Deformity 		group 0.020 None 1.000 2 0 2019 2019
Entrez Id: 257
Gene Symbol: ALX3
ALX3 		ALX homeobox 3 0.578 0.692 1.9E-02
CUI: C0302142
Disease: Deformity
Deformity 		group 0.020 None 1.000 2 0 1980 2014
Entrez Id: 145258
Gene Symbol: GSC
GSC 		goosecoid homeobox 0.631 0.615 1.4E-02
CUI: C0302142
Disease: Deformity
Deformity 		group 0.020 None 1.000 2 0 2013 2017
Entrez Id: 2475
Gene Symbol: MTOR
MTOR 		mechanistic target of rapamycin kinase 0.343 0.885 1.00
CUI: C0302142
Disease: Deformity
Deformity 		group 0.020 None 1.000 2 0 2019 2019
Entrez Id: 23443
Gene Symbol: SLC35A3
SLC35A3 		solute carrier family 35 member A3 0.716 0.308 2.6E-03
CUI: C0302142
Disease: Deformity
Deformity 		group 0.020 None 1.000 2 0 2013 2017
Entrez Id: 6121
Gene Symbol: RPE65
RPE65 		retinoid isomerohydrolase RPE65 0.417 0.808 6.5E-14
CUI: C0302142
Disease: Deformity
Deformity 		group 0.020 None 1.000 2 0 2002 2010
Entrez Id: 6899
Gene Symbol: TBX1
TBX1 		T-box transcription factor 1 0.433 0.808 0.84
CUI: C0302142
Disease: Deformity
Deformity 		group 0.020 None 1.000 2 0 1996 1996
Entrez Id: 6911
Gene Symbol: TBX6
TBX6 		T-box transcription factor 6 0.659 0.385 6.8E-03
CUI: C0302142
Disease: Deformity
Deformity 		group 0.020 None 1.000 2 0 2010 2017
Entrez Id: 6098
Gene Symbol: ROS1
ROS1 		ROS proto-oncogene 1, receptor tyrosine kinase 0.439 0.885 1.6E-72
CUI: C0302142
Disease: Deformity
Deformity 		group 0.020 None 1.000 2 0 2017 2018
Entrez Id: 2296
Gene Symbol: FOXC1
FOXC1 		forkhead box C1 0.483 0.846 0.95
CUI: C0302142
Disease: Deformity
Deformity 		group 0.020 None 1.000 2 0 2004 2007