Source: ALL

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: 9775
Gene Symbol: EIF4A3
EIF4A3
eukaryotic translation initiation factor 4A3 0.608 0.500 1.00
CUI: C0740404
Disease: Limb defects
Limb defects
group 0.010 None 1.000 1 0 2014 2014
Entrez Id: 5818
Gene Symbol: NECTIN1
NECTIN1
nectin cell adhesion molecule 1 0.523 0.808 6.1E-02
CUI: C0740404
Disease: Limb defects
Limb defects
group 0.010 None 1.000 1 0 2014 2014
Entrez Id: 57514
Gene Symbol: ARHGAP31
ARHGAP31
Rho GTPase activating protein 31 0.581 0.615 1.00
CUI: C0740404
Disease: Limb defects
Limb defects
group 0.010 None 1.000 1 0 2014 2014
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C0740404
Disease: Limb defects
Limb defects
group 0.010 None 1.000 1 0 2007 2007
Entrez Id: 51776
Gene Symbol: MAP3K20
MAP3K20
mitogen-activated protein kinase kinase kinase 20 0.564 0.769 8.4E-09
CUI: C0740404
Disease: Limb defects
Limb defects
group 0.010 None 1.000 1 0 2016 2016
Entrez Id: 51639
Gene Symbol: SF3B6
SF3B6
splicing factor 3b subunit 6 0.544 0.808 0.59
CUI: C0740404
Disease: Limb defects
Limb defects
group 0.010 None 1.000 1 0 1998 1998
Entrez Id: 5125
Gene Symbol: PCSK5
PCSK5
proprotein convertase subtilisin/kexin type 5 0.659 0.538 2.5E-12
CUI: C0740404
Disease: Limb defects
Limb defects
group 0.010 None 1.000 1 0 2017 2017
Entrez Id: 51185
Gene Symbol: CRBN
CRBN
cereblon 0.551 0.654 2.9E-04
CUI: C0740404
Disease: Limb defects
Limb defects
group 0.010 None 1.000 1 0 2014 2014
Entrez Id: 50814
Gene Symbol: NSDHL
NSDHL
NAD(P) dependent steroid dehydrogenase-like 0.621 0.538 0.96
CUI: C0740404
Disease: Limb defects
Limb defects
group 0.010 None 1.000 1 1 2003 2003
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
notch receptor 1 0.369 0.885 1.00
CUI: C0740404
Disease: Limb defects
Limb defects
group 0.010 None 1.000 1 0 2014 2014
Entrez Id: 4487
Gene Symbol: MSX1
MSX1
msh homeobox 1 0.525 0.731 0.17
CUI: C0740404
Disease: Limb defects
Limb defects
group 0.010 None < 0.001 1 0 2004 2004
Entrez Id: 4281
Gene Symbol: MID1
MID1
midline 1 0.621 0.654 0.98
CUI: C0740404
Disease: Limb defects
Limb defects
group 0.010 None 1.000 1 0 2003 2003
Entrez Id: 414
Gene Symbol: ARSD
ARSD
arylsulfatase D 0.535 0.808 1.6E-03
CUI: C0740404
Disease: Limb defects
Limb defects
group 0.010 None 1.000 1 0 1998 1998
Entrez Id: 6280
Gene Symbol: S100A9
S100A9
S100 calcium binding protein A9 0.433 0.885 0.48
CUI: C0740404
Disease: Limb defects
Limb defects
group 0.010 None 1.000 1 0 1998 1998
Entrez Id: 6395
Gene Symbol: SEA
SEA
S13 erythroblastosis (avian) oncogene homolog 0.606 0.615
CUI: C0740404
Disease: Limb defects
Limb defects
group 0.010 None 1.000 1 0 1997 1997
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
forkhead box L2 0.542 0.692 0.88
CUI: C0740404
Disease: Limb defects
Limb defects
group 0.010 None 1.000 1 0 2000 2000
Entrez Id: 9496
Gene Symbol: TBX4
TBX4
T-box transcription factor 4 0.576 0.731 0.50
CUI: C0740404
Disease: Limb defects
Limb defects
group 0.010 None 1.000 1 0 2011 2011
Entrez Id: 8988
Gene Symbol: HSPB3
HSPB3
heat shock protein family B (small) member 3 0.448 0.769 6.1E-05
CUI: C0740404
Disease: Limb defects
Limb defects
group 0.010 None 1.000 1 0 2005 2005
Entrez Id: 8942
Gene Symbol: KYNU
KYNU
kynureninase 0.617 0.692 4.2E-18
CUI: C0740404
Disease: Limb defects
Limb defects
group 0.010 None 1.000 1 0 2019 2019
Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
RUNX family transcription factor 2 0.437 0.846 0.95
CUI: C0740404
Disease: Limb defects
Limb defects
group 0.010 None 1.000 1 0 2018 2018
Entrez Id: 8403
Gene Symbol: SOX14
SOX14
SRY-box transcription factor 14 0.805 0.231 0.86
CUI: C0740404
Disease: Limb defects
Limb defects
group 0.010 None 1.000 1 0 2000 2000
Entrez Id: 83693
Gene Symbol: HSDL1
HSDL1
hydroxysteroid dehydrogenase like 1 0.821 0.192 3.4E-03
CUI: C0740404
Disease: Limb defects
Limb defects
group 0.010 None 1.000 1 0 2018 2018
Entrez Id: 7979
Gene Symbol: SEM1
SEM1
SEM1 26S proteasome complex subunit 0.633 0.538 1.8E-02
CUI: C0740404
Disease: Limb defects
Limb defects
group 0.010 None 1.000 1 0 2014 2014
Entrez Id: 7476
Gene Symbol: WNT7A
WNT7A
Wnt family member 7A 0.531 0.692 3.6E-02
CUI: C0740404
Disease: Limb defects
Limb defects
group 0.010 None 1.000 1 0 2017 2017
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
twist family bHLH transcription factor 1 0.397 0.846 0.34
CUI: C0740404
Disease: Limb defects
Limb defects
group 0.010 None 1.000 1 0 2007 2007