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: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.400 None 1.000 27 2 1985 2017
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
catenin beta 1 0.303 0.885 1.00
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.400 None 1.000 23 3 1991 2017
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.400 None 1.000 15 1 2001 2015
Entrez Id: 2932
Gene Symbol: GSK3B
GSK3B
glycogen synthase kinase 3 beta 0.430 0.846 0.96
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.300 None 1.000 1 0 2012 2012
Entrez Id: 7044
Gene Symbol: LEFTY2
LEFTY2
left-right determination factor 2 0.736 0.231 2.9E-04
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.300 None 1.000 1 0 1999 1999
Entrez Id: 1147
Gene Symbol: CHUK
CHUK
component of inhibitor of nuclear factor kappa B kinase complex 0.556 0.731 0.99
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.300 None 1.000 1 0 2010 2010
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
neurexin 1 0.581 0.692 1.00
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.300 None 1.000 1 0 2008 2008
Entrez Id: 55191
Gene Symbol: NADSYN1
NADSYN1
NAD synthetase 1 0.780 0.231 1.3E-16
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.300 strong 1.000 1 0 2020 2020
Entrez Id: 8942
Gene Symbol: KYNU
KYNU
kynureninase 0.617 0.692 4.2E-18
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.300 strong 1.000 1 0 2017 2017
Entrez Id: 5424
Gene Symbol: POLD1
POLD1
DNA polymerase delta 1, catalytic subunit 0.507 0.769 2.4E-06
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.300 None 1.000 1 0 2013 2013
Entrez Id: 8626
Gene Symbol: TP63
TP63
tumor protein p63 0.362 0.769 1.00
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.300 None 1.000 1 0 2011 2011
Entrez Id: 406
Gene Symbol: ARNTL
ARNTL
aryl hydrocarbon receptor nuclear translocator like 0.510 0.885 0.99
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.300 None 1.000 1 0 2014 2014
Entrez Id: 1055
Gene Symbol: CECR
CECR
cat eye syndrome chromosome region 0.599 0.731
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.300 None 1.000 1 0 2001 2001
Entrez Id: 2852
Gene Symbol: GPER1
GPER1
G protein-coupled estrogen receptor 1 0.505 0.731 0.57
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.300 None 1.000 1 0 2012 2012
Entrez Id: 23498
Gene Symbol: HAAO
HAAO
3-hydroxyanthranilate 3,4-dioxygenase 0.644 0.538 1.1E-08
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.300 strong 1.000 1 0 2017 2017
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
SET binding protein 1 0.503 0.808 1.00
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.300 None 1.000 1 0 2010 2010
Entrez Id: 27125
Gene Symbol: AFF4
AFF4
AF4/FMR2 family member 4 0.644 0.769 1.00
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.300 None 1.000 1 0 2015 2015
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
calcium voltage-gated channel subunit alpha1 A 0.489 0.769 1.00
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.100 None 1.000 46 1 1988 2017
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
DNA methyltransferase 3 alpha 0.445 0.846 7.4E-39
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.100 None 1.000 36 1 1989 2018
Entrez Id: 4763
Gene Symbol: NF1
NF1
neurofibromin 1 0.440 0.885 0.90
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.100 None 1.000 34 2 1967 2017
Entrez Id: 998
Gene Symbol: CDC42
CDC42
cell division cycle 42 0.458 0.846 0.79
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.100 None 1.000 30 1 1993 2015
Entrez Id: 3190
Gene Symbol: HNRNPK
HNRNPK
heterogeneous nuclear ribonucleoprotein K 0.539 0.846 1.00
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.100 None 1.000 30 1 1996 2018
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
fibrillin 1 0.417 0.846 1.00
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.100 None 1.000 29 2 1986 2016
Entrez Id: 6651
Gene Symbol: SON
SON
SON DNA binding protein 0.565 0.769 1.00
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.100 None 1.000 28 2 1988 2016
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
ATPase Na+/K+ transporting subunit alpha 3 0.544 0.615 1.00
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.100 None 1.000 27 1 1988 2017