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: 23462
Gene Symbol: HEY1
HEY1
hes related family bHLH transcription factor with YRPW motif 1 0.551 0.692 5.0E-02
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None < 0.001 1 0 2014 2014
Entrez Id: 5917
Gene Symbol: RARS1
RARS1
arginyl-tRNA synthetase 1 0.604 0.538 3.3E-08
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None < 0.001 1 0 1998 1998
Entrez Id: 5566
Gene Symbol: PRKACA
PRKACA
protein kinase cAMP-activated catalytic subunit alpha 0.606 0.692 0.97
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None < 0.001 1 0 2015 2015
Entrez Id: 3682
Gene Symbol: ITGAE
ITGAE
integrin subunit alpha E 0.579 0.692 3.9E-20
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None < 0.001 1 0 2013 2013
Entrez Id: 3337
Gene Symbol: DNAJB1
DNAJB1
DnaJ heat shock protein family (Hsp40) member B1 0.597 0.692 3.9E-02
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None < 0.001 1 0 2015 2015
Entrez Id: 3674
Gene Symbol: ITGA2B
ITGA2B
integrin subunit alpha 2b 0.493 0.692 1.5E-16
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None < 0.001 1 0 1996 1996
Entrez Id: 1028
Gene Symbol: CDKN1C
CDKN1C
cyclin dependent kinase inhibitor 1C 0.456 0.846 0.82
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None < 0.001 1 0 2007 2007
Entrez Id: 2334
Gene Symbol: AFF2
AFF2
AF4/FMR2 family member 2 0.636 0.538 1.00
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None < 0.001 1 0 2011 2011
Entrez Id: 7431
Gene Symbol: VIM
VIM
vimentin 0.372 0.846 0.71
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None < 0.001 1 0 2001 2001
Entrez Id: 23373
Gene Symbol: CRTC1
CRTC1
CREB regulated transcription coactivator 1 0.565 0.692 0.53
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None < 0.001 1 0 2009 2009
Entrez Id: 1044
Gene Symbol: CDX1
CDX1
caudal type homeobox 1 0.644 0.346 0.14
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None < 0.001 1 0 2014 2014
Entrez Id: 8163
Gene Symbol: CDR3
CDR3
Cerebellar degeneration-related autoantigen-3 0.472 0.808
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None < 0.001 1 0 2007 2007
Entrez Id: 2042
Gene Symbol: EPHA3
EPHA3
EPH receptor A3 0.497 0.692 1.2E-05
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None < 0.001 1 0 2018 2018
Entrez Id: 10984
Gene Symbol: KCNQ1OT1
KCNQ1OT1
KCNQ1 opposite strand/antisense transcript 1 0.534 0.731
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None < 0.001 1 0 2007 2007
Entrez Id: 2736
Gene Symbol: GLI2
GLI2
GLI family zinc finger 2 0.446 0.846 0.97
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None < 0.001 1 0 2014 2014
Entrez Id: 3875
Gene Symbol: KRT18
KRT18
keratin 18 0.530 0.692 0.73
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None < 0.001 1 0 2001 2001
Entrez Id: 8915
Gene Symbol: BCL10
BCL10
BCL10 immune signaling adaptor 0.491 0.769 0.34
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None < 0.001 1 0 2014 2014
Entrez Id: 2938
Gene Symbol: GSTA1
GSTA1
glutathione S-transferase alpha 1 0.561 0.731 1.7E-06
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None < 0.001 1 0 2007 2007
Entrez Id: 10734
Gene Symbol: STAG3
STAG3
stromal antigen 3 0.722 0.385 8.7E-13
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None < 0.001 1 0 2019 2019
Entrez Id: 3852
Gene Symbol: KRT5
KRT5
keratin 5 0.512 0.731 0.64
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None < 0.001 1 0 2001 2001
Entrez Id: 4254
Gene Symbol: KITLG
KITLG
KIT ligand 0.473 0.885 0.85
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None < 0.001 1 0 1994 1994
Entrez Id: 359948
Gene Symbol: IRF2BP2
IRF2BP2
interferon regulatory factor 2 binding protein 2 0.641 0.500 0.85
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None < 0.001 1 0 2014 2014
Entrez Id: 2158
Gene Symbol: F9
F9
coagulation factor IX 0.465 0.885 1.00
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.020 None 0.500 2 0 2004 2016
Entrez Id: 54790
Gene Symbol: TET2
TET2
tet methylcytosine dioxygenase 2 0.458 0.808 4.3E-54
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.020 None 0.500 2 0 2010 2011
Entrez Id: 611
Gene Symbol: OPN1SW
OPN1SW
opsin 1, short wave sensitive 0.519 0.769 2.1E-02
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.020 None 0.500 2 0 2006 2018