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: 1776
Gene Symbol: DNASE1L3
DNASE1L3
deoxyribonuclease 1 like 3 0.575 0.769 3.0E-05
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group 0.010 None 1.000 1 0 1971 1971
Entrez Id: 2885
Gene Symbol: GRB2
GRB2
growth factor receptor bound protein 2 0.546 0.769 0.94
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group 0.010 None 1.000 1 0 1975 1975
Entrez Id: 347527
Gene Symbol: ARSH
ARSH
arylsulfatase family member H 0.695 0.577 7.3E-08
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group 0.010 None 1.000 1 0 1975 1975
Entrez Id: 3105
Gene Symbol: HLA-A
HLA-A
major histocompatibility complex, class I, A 0.370 0.846 1.3E-03
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group 0.010 None < 0.001 1 0 1979 1979
Entrez Id: 6891
Gene Symbol: TAP2
TAP2
transporter 2, ATP binding cassette subfamily B member 0.517 0.808 6.9E-11
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group 0.010 None 1.000 1 0 1983 1983
Entrez Id: 6948
Gene Symbol: TCN2
TCN2
transcobalamin 2 0.578 0.615 1.0E-06
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group 0.010 None 1.000 1 1 1983 1983
Entrez Id: 462
Gene Symbol: SERPINC1
SERPINC1
serpin family C member 1 0.507 0.769 1.00
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group 0.020 None 1.000 2 0 1987 1988
Entrez Id: 4706
Gene Symbol: NDUFAB1
NDUFAB1
NADH:ubiquinone oxidoreductase subunit AB1 0.656 0.692 0.53
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group 0.010 None 1.000 1 0 1989 1989
Entrez Id: 52
Gene Symbol: ACP1
ACP1
acid phosphatase 1 0.566 0.731 1.8E-08
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group 0.010 None 1.000 1 0 1989 1989
Entrez Id: 9524
Gene Symbol: TECR
TECR
trans-2,3-enoyl-CoA reductase 0.674 0.423 0.11
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group 0.010 None 1.000 1 0 1989 1989
Entrez Id: 3150
Gene Symbol: HMGN1
HMGN1
high mobility group nucleosome binding domain 1 0.711 0.538 0.21
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group 0.010 None 1.000 1 0 1990 1990
Entrez Id: 28
Gene Symbol: ABO
ABO
ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase 0.427 0.885
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group 0.020 None 1.000 2 0 1982 1991
Entrez Id: 5554
Gene Symbol: PRH1
PRH1
proline rich protein HaeIII subfamily 1 0.659 0.500 7.2E-03
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group 0.010 None 1.000 1 0 1991 1991
Entrez Id: 5555
Gene Symbol: PRH2
PRH2
proline rich protein HaeIII subfamily 2 0.663 0.500 1.2E-02
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group 0.010 None 1.000 1 0 1991 1991
Entrez Id: 3815
Gene Symbol: KIT
KIT
KIT proto-oncogene, receptor tyrosine kinase 0.366 0.808 0.98
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group 0.020 None 1.000 2 0 1991 1992
Entrez Id: 1950
Gene Symbol: EGF
EGF
epidermal growth factor 0.357 0.923 8.5E-17
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group 0.010 None 1.000 1 0 1993 1993
Entrez Id: 1806
Gene Symbol: DPYD
DPYD
dihydropyrimidine dehydrogenase 0.493 0.846 3.4E-22
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group 0.010 None 1.000 1 0 1994 1994
Entrez Id: 1807
Gene Symbol: DPYS
DPYS
dihydropyrimidinase 0.621 0.577 2.8E-11
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group 0.010 None 1.000 1 0 1994 1994
Entrez Id: 4656
Gene Symbol: MYOG
MYOG
myogenin 0.623 0.615 0.90
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group 0.010 None 1.000 1 0 1994 1994
Entrez Id: 174
Gene Symbol: AFP
AFP
alpha fetoprotein 0.429 0.885 1.1E-11
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group 0.030 None 1.000 3 0 1979 1995
Entrez Id: 2252
Gene Symbol: FGF7
FGF7
fibroblast growth factor 7 0.519 0.846 0.77
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group 0.020 None 1.000 2 0 1995 1996
Entrez Id: 4914
Gene Symbol: NTRK1
NTRK1
neurotrophic receptor tyrosine kinase 1 0.422 0.808 2.0E-06
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group 0.010 None 1.000 1 0 1996 1996
Entrez Id: 6366
Gene Symbol: CCL21
CCL21
C-C motif chemokine ligand 21 0.502 0.769 3.6E-02
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group 0.010 None 1.000 1 0 1996 1996
Entrez Id: 7170
Gene Symbol: TPM3
TPM3
tropomyosin 3 0.490 0.808 6.7E-03
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group 0.010 None 1.000 1 0 1996 1996
Entrez Id: 4488
Gene Symbol: MSX2
MSX2
msh homeobox 2 0.539 0.769 0.26
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group 0.020 None 1.000 2 0 1997 1997