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: 5080
Gene Symbol: PAX6
PAX6
paired box 6 0.450 0.769 1.00
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None 1.000 1 0 1988 1988
Entrez Id: 5269
Gene Symbol: SERPINB6
SERPINB6
serpin family B member 6 0.547 0.769 1.1E-04
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None 1.000 1 0 2006 2006
Entrez Id: 5277
Gene Symbol: PIGA
PIGA
phosphatidylinositol glycan anchor biosynthesis class A 0.575 0.654 0.96
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None 1.000 1 0 2017 2017
Entrez Id: 5315
Gene Symbol: PKM
PKM
pyruvate kinase M1/2 0.482 0.808 0.85
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None 1.000 1 0 2017 2017
Entrez Id: 5316
Gene Symbol: PKNOX1
PKNOX1
PBX/knotted 1 homeobox 1 0.674 0.538 0.99
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None 1.000 1 0 2011 2011
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: 5359
Gene Symbol: PLSCR1
PLSCR1
phospholipid scramblase 1 0.674 0.500 1.2E-02
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None 1.000 1 0 2004 2004
Entrez Id: 5423
Gene Symbol: POLB
POLB
DNA polymerase beta 0.606 0.654 3.4E-05
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None 1.000 1 0 2014 2014
Entrez Id: 5424
Gene Symbol: POLD1
POLD1
DNA polymerase delta 1, catalytic subunit 0.507 0.769 2.4E-06
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None 1.000 1 0 2016 2016
Entrez Id: 54465
Gene Symbol: ETAA1
ETAA1
ETAA1 activator of ATR kinase 0.861 0.154 7.8E-03
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None 1.000 1 0 2019 2019
Entrez Id: 5454
Gene Symbol: POU3F2
POU3F2
POU class 3 homeobox 2 0.700 0.423 0.92
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None 1.000 1 0 1995 1995
Entrez Id: 5457
Gene Symbol: POU4F1
POU4F1
POU class 4 homeobox 1 0.628 0.500 0.89
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None 1.000 1 0 2002 2002
Entrez Id: 54617
Gene Symbol: INO80
INO80
INO80 complex ATPase subunit 0.751 0.385 1.00
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None 1.000 1 0 2015 2015
Entrez Id: 54658
Gene Symbol: UGT1A1
UGT1A1
UDP glucuronosyltransferase family 1 member A1 0.464 0.769 3.3E-06
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None 1.000 1 0 2014 2014
Entrez Id: 54799
Gene Symbol: MBTD1
MBTD1
mbt domain containing 1 0.780 0.192 1.00
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None 1.000 1 0 2014 2014
Entrez Id: 54858
Gene Symbol: PGPEP1
PGPEP1
pyroglutamyl-peptidase I 0.581 0.769 8.5E-03
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None 1.000 1 0 2017 2017
Entrez Id: 55004
Gene Symbol: LAMTOR1
LAMTOR1
late endosomal/lysosomal adaptor, MAPK and MTOR activator 1 0.597 0.615 0.72
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None 1.000 1 0 2019 2019
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4
ATP binding cassette subfamily B member 4 0.529 0.615 2.2E-07
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None 1.000 1 0 2006 2006
Entrez Id: 52
Gene Symbol: ACP1
ACP1
acid phosphatase 1 0.566 0.731 1.8E-08
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None 1.000 1 0 2011 2011
Entrez Id: 50802
Gene Symbol: IGK
IGK
immunoglobulin kappa locus 0.647 0.462
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None 1.000 1 0 1995 1995
Entrez Id: 50943
Gene Symbol: FOXP3
FOXP3
forkhead box P3 0.368 0.846 0.99
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None 1.000 1 1 2018 2018
Entrez Id: 5116
Gene Symbol: PCNT
PCNT
pericentrin 0.564 0.808 4.0E-58
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None 1.000 1 0 2010 2010
Entrez Id: 5130
Gene Symbol: PCYT1A
PCYT1A
phosphate cytidylyltransferase 1, choline, alpha 0.485 0.885 2.0E-05
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None 1.000 1 0 2019 2019
Entrez Id: 5133
Gene Symbol: PDCD1
PDCD1
programmed cell death 1 0.402 0.846 0.42
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None 1.000 1 0 2017 2017
Entrez Id: 51360
Gene Symbol: MBTPS2
MBTPS2
membrane bound transcription factor peptidase, site 2 0.513 0.769 1.00
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None 1.000 1 0 1992 1992