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: 284203
Gene Symbol: RNASEH1P1
RNASEH1P1
ribonuclease H1 pseudogene 1
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None 1.000 1 0 2017 2017
Entrez Id: 342933
Gene Symbol: ZSCAN5B
ZSCAN5B
zinc finger and SCAN domain containing 5B 1.0E-12
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None 1.000 1 0 2019 2019
Entrez Id: 53371
Gene Symbol: NUP54
NUP54
nucleoporin 54 0.22
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None 1.000 1 0 2018 2018
Entrez Id: 79819
Gene Symbol: WDR78
WDR78
WD repeat domain 78 4.3E-17
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None 1.000 1 0 1996 1996
Entrez Id: 94239
Gene Symbol: H2AZ2
H2AZ2
H2A.Z variant histone 2 0.47
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None 1.000 1 0 2017 2017
Entrez Id: 7124
Gene Symbol: TNF
TNF
tumor necrosis factor 0.231 0.962 0.80
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None 1.000 1 0 2004 2004
Entrez Id: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.236 0.962 0.53
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.100 None 1.000 79 5 1991 2019
Entrez Id: 3569
Gene Symbol: IL6
IL6
interleukin 6 0.248 0.962 0.32
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.020 None 1.000 2 0 1992 1996
Entrez Id: 7422
Gene Symbol: VEGFA
VEGFA
vascular endothelial growth factor A 0.266 0.923 2.4E-05
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None 1.000 1 0 2009 2009
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
transforming growth factor beta 1 0.287 0.962 3.7E-02
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.020 None 1.000 2 0 2001 2011
Entrez Id: 596
Gene Symbol: BCL2
BCL2
BCL2 apoptosis regulator 0.291 0.885 0.56
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.100 None 0.955 22 0 1991 2017
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha 0.292 0.923 1.00
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.040 None 1.000 4 0 2001 2018
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
epidermal growth factor receptor 0.295 0.885 0.37
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.040 None 1.000 4 0 2005 2018
Entrez Id: 1401
Gene Symbol: CRP
CRP
C-reactive protein 0.299 0.962 3.7E-03
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.020 None 0.500 2 0 2004 2007
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
cyclin dependent kinase inhibitor 2A 0.300 0.885 0.39
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.100 None 1.000 11 0 1995 2017
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
catenin beta 1 0.303 0.885 1.00
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.020 None 1.000 2 0 2014 2019
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.040 None 0.750 4 0 2006 2016
Entrez Id: 4318
Gene Symbol: MMP9
MMP9
matrix metallopeptidase 9 0.305 0.923 1.9E-17
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None 1.000 1 0 2019 2019
Entrez Id: 207
Gene Symbol: AKT1
AKT1
AKT serine/threonine kinase 1 0.311 0.962 0.98
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.020 None 1.000 2 0 2006 2015
Entrez Id: 5743
Gene Symbol: PTGS2
PTGS2
prostaglandin-endoperoxide synthase 2 0.314 0.962 1.00
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None 1.000 1 0 2007 2007
Entrez Id: 213
Gene Symbol: ALB
ALB
albumin 0.317 0.962 0.64
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.070 None 0.857 7 0 1991 2018
Entrez Id: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.319 0.846 1.00
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.040 None 0.750 4 2 2006 2013
Entrez Id: 5293
Gene Symbol: PIK3CD
PIK3CD
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta 0.319 0.885 1.00
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.020 None 1.000 2 0 2015 2018
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
KRAS proto-oncogene, GTPase 0.320 0.923 7.9E-04
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.090 None 0.778 9 0 1986 2015
Entrez Id: 5294
Gene Symbol: PIK3CG
PIK3CG
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma 0.320 0.885 1.4E-06
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.020 None 1.000 2 0 2015 2018