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: 5069
Gene Symbol: PAPPA
PAPPA
pappalysin 1 0.558 0.692 0.16
CUI: C0152096
Disease: Complete trisomy 18 syndrome
Complete trisomy 18 syndrome
disease 0.100 None 1.000 11 0 1996 2019
Entrez Id: 174
Gene Symbol: AFP
AFP
alpha fetoprotein 0.429 0.885 1.1E-11
CUI: C0152096
Disease: Complete trisomy 18 syndrome
Complete trisomy 18 syndrome
disease 0.100 None 1.000 10 0 1978 2013
Entrez Id: 596
Gene Symbol: BCL2
BCL2
BCL2 apoptosis regulator 0.291 0.885 0.56
CUI: C0152096
Disease: Complete trisomy 18 syndrome
Complete trisomy 18 syndrome
disease 0.030 None 0.667 3 0 2000 2012
Entrez Id: 3492
Gene Symbol: IGH
IGH
immunoglobulin heavy locus 0.473 0.654
CUI: C0152096
Disease: Complete trisomy 18 syndrome
Complete trisomy 18 syndrome
disease 0.030 None 1.000 3 0 2010 2012
Entrez Id: 604
Gene Symbol: BCL6
BCL6
BCL6 transcription repressor 0.444 0.808 0.96
CUI: C0152096
Disease: Complete trisomy 18 syndrome
Complete trisomy 18 syndrome
disease 0.020 None 0.500 2 0 2010 2013
Entrez Id: 8038
Gene Symbol: ADAM12
ADAM12
ADAM metallopeptidase domain 12 0.565 0.731 5.7E-07
CUI: C0152096
Disease: Complete trisomy 18 syndrome
Complete trisomy 18 syndrome
disease 0.020 None 1.000 2 0 2007 2012
Entrez Id: 10892
Gene Symbol: MALT1
MALT1
MALT1 paracaspase 0.532 0.769 0.99
CUI: C0152096
Disease: Complete trisomy 18 syndrome
Complete trisomy 18 syndrome
disease 0.020 None 1.000 2 0 2005 2011
Entrez Id: 56729
Gene Symbol: RETN
RETN
resistin 0.454 0.808 3.7E-02
CUI: C0152096
Disease: Complete trisomy 18 syndrome
Complete trisomy 18 syndrome
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 55748
Gene Symbol: CNDP2
CNDP2
carnosine dipeptidase 2 0.659 0.500 1.0E-07
CUI: C0152096
Disease: Complete trisomy 18 syndrome
Complete trisomy 18 syndrome
disease 0.010 None 1.000 1 0 1988 1988
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C0152096
Disease: Complete trisomy 18 syndrome
Complete trisomy 18 syndrome
disease 0.010 None 1.000 1 0 1995 1995
Entrez Id: 5268
Gene Symbol: SERPINB5
SERPINB5
serpin family B member 5 0.582 0.577 3.6E-03
CUI: C0152096
Disease: Complete trisomy 18 syndrome
Complete trisomy 18 syndrome
disease 0.010 None 1.000 1 0 2008 2008
Entrez Id: 5228
Gene Symbol: PGF
PGF
placental growth factor 0.460 0.846 0.13
CUI: C0152096
Disease: Complete trisomy 18 syndrome
Complete trisomy 18 syndrome
disease 0.010 None 1.000 1 0 2014 2014
Entrez Id: 4609
Gene Symbol: MYC
MYC
MYC proto-oncogene, bHLH transcription factor 0.344 0.923 1.00
CUI: C0152096
Disease: Complete trisomy 18 syndrome
Complete trisomy 18 syndrome
disease 0.010 None 1.000 1 0 2010 2010
Entrez Id: 5055
Gene Symbol: SERPINB2
SERPINB2
serpin family B member 2 0.502 0.808 6.4E-12
CUI: C0152096
Disease: Complete trisomy 18 syndrome
Complete trisomy 18 syndrome
disease 0.010 None 1.000 1 0 2009 2009
Entrez Id: 995
Gene Symbol: CDC25C
CDC25C
cell division cycle 25C 0.576 0.769 4.1E-13
CUI: C0152096
Disease: Complete trisomy 18 syndrome
Complete trisomy 18 syndrome
disease 0.010 None 1.000 1 0 1997 1997
Entrez Id: 7012
Gene Symbol: TERC
TERC
telomerase RNA component 0.471 0.846
CUI: C0152096
Disease: Complete trisomy 18 syndrome
Complete trisomy 18 syndrome
disease 0.010 None 1.000 1 0 2012 2012
Entrez Id: 952
Gene Symbol: CD38
CD38
CD38 molecule 0.407 0.885 2.3E-06
CUI: C0152096
Disease: Complete trisomy 18 syndrome
Complete trisomy 18 syndrome
disease 0.010 None < 0.001 1 0 1998 1998
Entrez Id: 94115
Gene Symbol: CGB8
CGB8
chorionic gonadotropin subunit beta 8 0.585 0.654 1.6E-02
CUI: C0152096
Disease: Complete trisomy 18 syndrome
Complete trisomy 18 syndrome
disease 0.010 None 1.000 1 0 2000 2000
Entrez Id: 93659
Gene Symbol: CGB5
CGB5
chorionic gonadotropin subunit beta 5 0.579 0.654 2.5E-02
CUI: C0152096
Disease: Complete trisomy 18 syndrome
Complete trisomy 18 syndrome
disease 0.010 None 1.000 1 0 2000 2000
Entrez Id: 9218
Gene Symbol: VAPA
VAPA
VAMP associated protein A 0.760 0.423 0.35
CUI: C0152096
Disease: Complete trisomy 18 syndrome
Complete trisomy 18 syndrome
disease 0.010 None 1.000 1 0 2010 2010
Entrez Id: 6139
Gene Symbol: RPL17
RPL17
ribosomal protein L17 0.559 0.731 0.92
CUI: C0152096
Disease: Complete trisomy 18 syndrome
Complete trisomy 18 syndrome
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 7544
Gene Symbol: ZFY
ZFY
zinc finger protein Y-linked 0.716 0.308 0.69
CUI: C0152096
Disease: Complete trisomy 18 syndrome
Complete trisomy 18 syndrome
disease 0.010 None 1.000 1 0 2010 2010
Entrez Id: 7267
Gene Symbol: TTC3
TTC3
tetratricopeptide repeat domain 3 0.780 0.385 1.6E-40
CUI: C0152096
Disease: Complete trisomy 18 syndrome
Complete trisomy 18 syndrome
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.236 0.962 0.53
CUI: C0152096
Disease: Complete trisomy 18 syndrome
Complete trisomy 18 syndrome
disease 0.010 None 1.000 1 0 2013 2013
Entrez Id: 5047
Gene Symbol: PAEP
PAEP
progestagen associated endometrial protein 0.430 0.846 3.1E-08
CUI: C0152096
Disease: Complete trisomy 18 syndrome
Complete trisomy 18 syndrome
disease 0.010 None 1.000 1 0 2009 2009