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: 9200
Gene Symbol: HACD1
HACD1
3-hydroxyacyl-CoA dehydratase 1 0.539 0.846 1.3E-09
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None 1.000 1 0 2006 2006
Entrez Id: 5170
Gene Symbol: PDPK1
PDPK1
3-phosphoinositide dependent protein kinase 1 0.588 0.808 0.98
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None 1.000 1 0 2014 2014
Entrez Id: 3356
Gene Symbol: HTR2A
HTR2A
5-hydroxytryptamine receptor 2A 0.473 0.846 0.51
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None 1.000 1 0 2008 2008
Entrez Id: 4548
Gene Symbol: MTR
MTR
5-methyltetrahydrofolate-homocysteine methyltransferase 0.482 0.808 2.4E-12
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.020 None 1.000 2 0 2009 2011
Entrez Id: 4968
Gene Symbol: OGG1
OGG1
8-oxoguanine DNA glycosylase 0.453 0.808 3.9E-12
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None 1.000 1 1 2012 2012
Entrez Id: 25
Gene Symbol: ABL1
ABL1
ABL proto-oncogene 1, non-receptor tyrosine kinase 0.432 0.923 1.00
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.100 None 0.972 36 0 1990 2017
Entrez Id: 28
Gene Symbol: ABO
ABO
ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase 0.427 0.885
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None 1.000 1 0 1996 1996
Entrez Id: 65057
Gene Symbol: ACD
ACD
ACD shelterin complex subunit and telomerase recruitment factor 0.603 0.731 1.1E-12
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.020 None 1.000 2 0 2004 2017
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: 60
Gene Symbol: ACTB
ACTB
actin beta 0.325 0.923 0.99
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None 1.000 1 0 2016 2016
Entrez Id: 57379
Gene Symbol: AICDA
AICDA
activation induced cytidine deaminase 0.463 0.885 9.2E-06
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.030 None 1.000 3 0 2004 2019
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
activin A receptor like type 1 0.493 0.769 9.7E-04
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None 1.000 1 0 2014 2014
Entrez Id: 2182
Gene Symbol: ACSL4
ACSL4
acyl-CoA synthetase long chain family member 4 0.561 0.769 0.98
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None 1.000 1 0 2006 2006
Entrez Id: 8038
Gene Symbol: ADAM12
ADAM12
ADAM metallopeptidase domain 12 0.565 0.731 5.7E-07
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None 1.000 1 0 2007 2007
Entrez Id: 8754
Gene Symbol: ADAM9
ADAM9
ADAM metallopeptidase domain 9 0.560 0.654 2.9E-02
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None 1.000 1 0 2018 2018
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: 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: 290
Gene Symbol: ANPEP
ANPEP
alanyl aminopeptidase, membrane 0.462 0.769 3.7E-09
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None 1.000 1 0 2010 2010
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: 10327
Gene Symbol: AKR1A1
AKR1A1
aldo-keto reductase family 1 member A1 0.510 0.846 6.7E-07
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None 1.000 1 0 2007 2007
Entrez Id: 238
Gene Symbol: ALK
ALK
ALK receptor tyrosine kinase 0.396 0.846 3.2E-06
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.100 None 1.000 11 2 1998 2017
Entrez Id: 250
Gene Symbol: ALPP
ALPP
alkaline phosphatase, placental 0.487 0.808 1.8E-13
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None 1.000 1 0 2009 2009
Entrez Id: 51374
Gene Symbol: ATRAID
ATRAID
all-trans retinoic acid induced differentiation factor 0.601 0.654 1.1E-04
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None 1.000 1 0 2019 2019
Entrez Id: 174
Gene Symbol: AFP
AFP
alpha fetoprotein 0.429 0.885 1.1E-11
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.060 None 1.000 6 0 1993 2000
Entrez Id: 259
Gene Symbol: AMBP
AMBP
alpha-1-microglobulin/bikunin precursor 0.537 0.731 2.8E-13
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group 0.010 None 1.000 1 0 2000 2000