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: 3440
Gene Symbol: IFNA2
IFNA2 		interferon alpha 2 0.442 0.885
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		phenotype 0.300 None 1.000 1 0 1997 1997
Entrez Id: 4547
Gene Symbol: MTTP
MTTP 		microsomal triglyceride transfer protein 0.505 0.846 1.0E-05
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		disease 0.800 None 0.982 13 16 1985 2019
Entrez Id: 10683
Gene Symbol: DLL3
DLL3 		delta like canonical Notch ligand 3 0.552 0.654 5.4E-05
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		group 0.330 None 1.000 1 0 2002 2011
Entrez Id: 1295
Gene Symbol: COL8A1
COL8A1 		collagen type VIII alpha 1 chain 0.678 0.538 0.41
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		group 0.300 None 1.000 1 0 2008 2008
Entrez Id: 1317
Gene Symbol: SLC31A1
SLC31A1 		solute carrier family 31 member 1 0.612 0.577 6.5E-02
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		group 0.300 None 1.000 1 0 2001 2001
Entrez Id: 156
Gene Symbol: GRK2
GRK2 		G protein-coupled receptor kinase 2 0.532 0.654 1.00
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		group 0.300 None 1.000 1 0 2006 2006
Entrez Id: 2138
Gene Symbol: EYA1
EYA1 		EYA transcriptional coactivator and phosphatase 1 0.531 0.731 0.95
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		group 0.350 None 1.000 1 0 1999 2018
Entrez Id: 2332
Gene Symbol: FMR1
FMR1 		FMRP translational regulator 1 0.473 0.769 0.65
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		group 0.330 None 1.000 1 0 2010 2018
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: 4851
Gene Symbol: NOTCH1
NOTCH1 		notch receptor 1 0.369 0.885 1.00
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		group 0.400 None 1.000 1 0 2005 2019
Entrez Id: 6299
Gene Symbol: SALL1
SALL1 		spalt like transcription factor 1 0.539 0.808 1.00
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		group 0.350 None 1.000 1 0 2002 2019
Entrez Id: 6495
Gene Symbol: SIX1
SIX1 		SIX homeobox 1 0.496 0.692 0.65
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		group 0.350 None 1.000 1 0 2003 2019
Entrez Id: 9314
Gene Symbol: KLF4
KLF4 		Kruppel like factor 4 0.449 0.769 1.00
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		group 0.300 None 1.000 1 0 2010 2010
Entrez Id: 847
Gene Symbol: CAT
CAT 		catalase 0.359 0.962 1.6E-10
CUI: C0000771
Disease: Abnormalities, Drug-Induced
Abnormalities, Drug-Induced 		group 0.300 None 1.000 2 0 2011 2015
Entrez Id: 2052
Gene Symbol: EPHX1
EPHX1 		epoxide hydrolase 1 0.500 0.846 3.2E-09
CUI: C0000771
Disease: Abnormalities, Drug-Induced
Abnormalities, Drug-Induced 		group 0.300 None 1.000 1 0 1990 1990
Entrez Id: 387
Gene Symbol: RHOA
RHOA 		ras homolog family member A 0.502 0.808 0.60
CUI: C0000771
Disease: Abnormalities, Drug-Induced
Abnormalities, Drug-Induced 		group 0.300 None 1.000 1 0 2015 2015
Entrez Id: 51185
Gene Symbol: CRBN
CRBN 		cereblon 0.551 0.654 2.9E-04
CUI: C0000771
Disease: Abnormalities, Drug-Induced
Abnormalities, Drug-Induced 		group 0.300 None 1.000 1 0 2016 2016
Entrez Id: 7481
Gene Symbol: WNT11
WNT11 		Wnt family member 11 0.608 0.654 6.4E-03
CUI: C0000771
Disease: Abnormalities, Drug-Induced
Abnormalities, Drug-Induced 		group 0.300 None 1.000 1 0 2015 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: 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: 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: 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