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: 2348
Gene Symbol: FOLR1
FOLR1
folate receptor alpha 0.522 0.885 0.13
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group 0.310 None 1.000 1 0 2010 2018
Entrez Id: 5325
Gene Symbol: PLAGL1
PLAGL1
PLAG1 like zinc finger 1 0.566 0.769 0.98
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group 0.020 None 1.000 1 0 2004 2013
Entrez Id: 100049542
Gene Symbol: SHFM3
SHFM3
Split-hand/foot malformation 3 0.780 0.115
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group 0.010 None 1.000 1 0 2006 2006
Entrez Id: 100126310
Gene Symbol: MIR876
MIR876
microRNA 876 0.666 0.385
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group 0.010 None 1.000 1 0 2015 2015
Entrez Id: 100126316
Gene Symbol: MIR873
MIR873
microRNA 873 0.601 0.538
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group 0.010 None 1.000 1 0 2015 2015
Entrez Id: 100133941
Gene Symbol: CD24
CD24
CD24 molecule 0.472 0.769
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group 0.010 None 1.000 1 0 2008 2008
Entrez Id: 100188881
Gene Symbol: MFT2
MFT2
Trichoepithelioma, multiple familial, 2 0.601 0.692
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group 0.010 None 1.000 1 0 2019 2019
Entrez Id: 100288687
Gene Symbol: DUX4
DUX4
double homeobox 4 0.604 0.500
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group 0.010 None 1.000 1 0 2016 2016
Entrez Id: 100380873
Gene Symbol: FECD3
FECD3
Corneal dystrophy, Fuchs endothelial, 3 0.769 0.385
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group 0.010 None 1.000 1 0 2014 2014
Entrez Id: 1005
Gene Symbol: CDH7
CDH7
cadherin 7 0.769 0.231 0.60
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group 0.010 None 1.000 1 0 2008 2008
Entrez Id: 100505887
Gene Symbol: LINC01672
LINC01672
long intergenic non-protein coding RNA 1672 0.462 0.846
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group 0.010 None 1.000 1 0 2013 2013
Entrez Id: 10052
Gene Symbol: GJC1
GJC1
gap junction protein gamma 1 0.722 0.385 0.99
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group 0.010 None 1.000 1 0 2017 2017
Entrez Id: 100528016
Gene Symbol: TMX2-CTNND1
TMX2-CTNND1
TMX2-CTNND1 readthrough (NMD candidate) 0.538 0.769
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group 0.010 None 1.000 1 0 2019 2019
Entrez Id: 100528024
Gene Symbol: DEL11P13
DEL11P13
Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome 0.716 0.538
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group 0.010 None 1.000 1 0 1997 1997
Entrez Id: 100532724
Gene Symbol: NPHP3-ACAD11
NPHP3-ACAD11
NPHP3-ACAD11 readthrough (NMD candidate) 0.663 0.577
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group 0.010 None 1.000 1 0 2013 2013
Entrez Id: 10084
Gene Symbol: PQBP1
PQBP1
polyglutamine binding protein 1 0.570 0.654 0.79
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group 0.010 None 1.000 1 0 2019 2019
Entrez Id: 10085
Gene Symbol: EDIL3
EDIL3
EGF like repeats and discoidin domains 3 0.564 0.769 1.5E-04
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group 0.010 None 1.000 1 0 1999 1999
Entrez Id: 1009
Gene Symbol: CDH11
CDH11
cadherin 11 0.512 0.808 1.00
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group 0.010 None 1.000 1 0 2018 2018
Entrez Id: 10117
Gene Symbol: ENAM
ENAM
enamelin 0.674 0.346 1.3E-12
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group 0.010 None 1.000 1 0 2019 2019
Entrez Id: 10149
Gene Symbol: ADGRG2
ADGRG2
adhesion G protein-coupled receptor G2 0.736 0.231 0.93
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group 0.010 None 1.000 1 0 2017 2017
Entrez Id: 101929726
Gene Symbol: MYMX
MYMX
myomixer, myoblast fusion factor 0.700 0.500
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group 0.010 None 1.000 1 0 2017 2017
Entrez Id: 10194
Gene Symbol: TSHZ1
TSHZ1
teashirt zinc finger homeobox 1 0.569 0.731 1.00
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group 0.010 None 1.000 1 0 2011 2011
Entrez Id: 10236
Gene Symbol: HNRNPR
HNRNPR
heterogeneous nuclear ribonucleoprotein R 0.722 0.308 1.00
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group 0.010 None 1.000 1 0 2019 2019
Entrez Id: 10252
Gene Symbol: SPRY1
SPRY1
sprouty RTK signaling antagonist 1 0.603 0.577 3.0E-03
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group 0.010 None 1.000 1 0 2012 2012
Entrez Id: 10253
Gene Symbol: SPRY2
SPRY2
sprouty RTK signaling antagonist 2 0.554 0.654 0.97
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group 0.010 None 1.000 1 0 2009 2009