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: 51227
Gene Symbol: PIGP
PIGP
phosphatidylinositol glycan anchor biosynthesis class P 0.633 0.462 1.9E-03
CUI: C0302142
Disease: Deformity
Deformity
group 0.010 None < 0.001 1 0 2001 2001
Entrez Id: 89884
Gene Symbol: LHX4
LHX4
LIM homeobox 4 0.621 0.462 1.8E-02
CUI: C0302142
Disease: Deformity
Deformity
group 0.010 None < 0.001 1 0 2010 2010
Entrez Id: 85416
Gene Symbol: ZIC5
ZIC5
Zic family member 5 0.711 0.231 0.77
CUI: C0302142
Disease: Deformity
Deformity
group 0.010 None < 0.001 1 0 2004 2004
Entrez Id: 339476
Gene Symbol: ERVMER61-1
ERVMER61-1
endogenous retrovirus group MER61 member 1 0.890 0.115
CUI: C0302142
Disease: Deformity
Deformity
group 0.010 None < 0.001 1 0 2013 2013
Entrez Id: 83716
Gene Symbol: CRISPLD2
CRISPLD2
cysteine rich secretory protein LCCL domain containing 2 0.585 0.769 7.8E-09
CUI: C0302142
Disease: Deformity
Deformity
group 0.010 None < 0.001 1 0 2011 2011
Entrez Id: 1834
Gene Symbol: DSPP
DSPP
dentin sialophosphoprotein 0.556 0.769 1.1E-07
CUI: C0302142
Disease: Deformity
Deformity
group 0.010 None < 0.001 1 0 2017 2017
Entrez Id: 2255
Gene Symbol: FGF10
FGF10
fibroblast growth factor 10 0.530 0.692 0.94
CUI: C0302142
Disease: Deformity
Deformity
group 0.010 None < 0.001 1 0 2019 2019
Entrez Id: 5626
Gene Symbol: PROP1
PROP1
PROP paired-like homeobox 1 0.576 0.615 8.8E-02
CUI: C0302142
Disease: Deformity
Deformity
group 0.010 None < 0.001 1 0 2010 2010
Entrez Id: 2253
Gene Symbol: FGF8
FGF8
fibroblast growth factor 8 0.507 0.769 0.68
CUI: C0302142
Disease: Deformity
Deformity
group 0.010 None < 0.001 1 0 2019 2019
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: 2263
Gene Symbol: FGFR2
FGFR2
fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C0302142
Disease: Deformity
Deformity
group 0.020 None 0.500 2 1 2008 2019
Entrez Id: 2248
Gene Symbol: FGF3
FGF3
fibroblast growth factor 3 0.505 0.808 9.3E-05
CUI: C0302142
Disease: Deformity
Deformity
group 0.030 None 0.667 3 0 2007 2010
Entrez Id: 3239
Gene Symbol: HOXD13
HOXD13
homeobox D13 0.483 0.808 8.6E-03
CUI: C0302142
Disease: Deformity
Deformity
group 0.040 None 0.750 4 0 2000 2019
Entrez Id: 6910
Gene Symbol: TBX5
TBX5
T-box transcription factor 5 0.528 0.769 1.00
CUI: C0302142
Disease: Deformity
Deformity
group 0.040 None 0.750 4 0 1997 2009
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
7-dehydrocholesterol reductase 0.500 0.846 3.9E-13
CUI: C0302142
Disease: Deformity
Deformity
group 0.100 None 1.000 14 0 1994 2020
Entrez Id: 5048
Gene Symbol: PAFAH1B1
PAFAH1B1
platelet activating factor acetylhydrolase 1b regulatory subunit 1 0.504 0.769 1.00
CUI: C0302142
Disease: Deformity
Deformity
group 0.080 None 1.000 8 0 1999 2009
Entrez Id: 4807
Gene Symbol: NHLH1
NHLH1
nescient helix-loop-helix 1 0.686 0.538 0.26
CUI: C0302142
Disease: Deformity
Deformity
group 0.070 None 1.000 7 0 2012 2019
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
paired box 6 0.450 0.769 1.00
CUI: C0302142
Disease: Deformity
Deformity
group 0.070 None 1.000 7 0 1999 2019
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
forkhead box L2 0.542 0.692 0.88
CUI: C0302142
Disease: Deformity
Deformity
group 0.060 None 1.000 6 0 2003 2018
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C0302142
Disease: Deformity
Deformity
group 0.050 None 1.000 5 0 2012 2016
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
solute carrier family 26 member 4 0.507 0.885 9.0E-22
CUI: C0302142
Disease: Deformity
Deformity
group 0.050 None 1.000 5 0 2000 2020
Entrez Id: 1947
Gene Symbol: EFNB1
EFNB1
ephrin B1 0.561 0.769 0.93
CUI: C0302142
Disease: Deformity
Deformity
group 0.040 None 1.000 4 0 2007 2011
Entrez Id: 1641
Gene Symbol: DCX
DCX
doublecortin 0.511 0.769 0.30
CUI: C0302142
Disease: Deformity
Deformity
group 0.040 None 1.000 4 0 1999 2019
Entrez Id: 5076
Gene Symbol: PAX2
PAX2
paired box 2 0.495 0.731 0.67
CUI: C0302142
Disease: Deformity
Deformity
group 0.040 None 1.000 4 0 1999 2011
Entrez Id: 60
Gene Symbol: ACTB
ACTB
actin beta 0.325 0.923 0.99
CUI: C0302142
Disease: Deformity
Deformity
group 0.040 None 1.000 4 0 2012 2018