Source: CURATED

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: 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 1 3 1991 2017
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 1 2 1985 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 1 1 2001 2015
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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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