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: 952
Gene Symbol: CD38
CD38
CD38 molecule 0.407 0.885 2.3E-06
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 1975 1975
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
serpin family A member 1 0.410 0.923 6.8E-08
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.040 None 0.750 4 0 1976 1982
Entrez Id: 3240
Gene Symbol: HP
HP
haptoglobin 0.412 0.885 1.7E-05
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 1976 1976
Entrez Id: 590
Gene Symbol: BCHE
BCHE
butyrylcholinesterase 0.447 0.923 1.1E-13
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.030 None 1.000 3 0 1977 2018
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
superoxide dismutase 1 0.379 0.962 0.18
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.100 None 1.000 40 0 1980 2017
Entrez Id: 2
Gene Symbol: A2M
A2M
alpha-2-macroglobulin 0.529 0.769 4.5E-11
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 1980 1980
Entrez Id: 1363
Gene Symbol: CPE
CPE
carboxypeptidase E 0.584 0.692 0.99
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None < 0.001 1 0 1981 1981
Entrez Id: 1312
Gene Symbol: COMT
COMT
catechol-O-methyltransferase 0.400 0.923 1.1E-06
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.020 None 1.000 2 0 1982 1985
Entrez Id: 5617
Gene Symbol: PRL
PRL
prolactin 0.406 0.885 2.9E-07
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 1982 1982
Entrez Id: 147719
Gene Symbol: LYPD4
LYPD4
LY6/PLAUR domain containing 4 0.601 0.692 9.0E-06
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 1983 1983
Entrez Id: 4360
Gene Symbol: MRC1
MRC1
mannose receptor C-type 1 0.413 0.846 0.94
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 1983 1983
Entrez Id: 174
Gene Symbol: AFP
AFP
alpha fetoprotein 0.429 0.885 1.1E-11
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.100 None 0.957 23 0 1986 2019
Entrez Id: 213
Gene Symbol: ALB
ALB
albumin 0.317 0.962 0.64
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.030 None 1.000 3 0 1986 2010
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
prion protein 0.445 0.923 6.3E-04
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.030 None 1.000 3 0 1986 2003
Entrez Id: 5018
Gene Symbol: OXA1L
OXA1L
OXA1L mitochondrial inner membrane protein 0.590 0.731 1.9E-10
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.020 None 1.000 2 0 1986 1988
Entrez Id: 2114
Gene Symbol: ETS2
ETS2
ETS proto-oncogene 2, transcription factor 0.548 0.808 1.00
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.100 None 1.000 25 4 1987 2014
Entrez Id: 2996
Gene Symbol: GYPE
GYPE
glycophorin E (MNS blood group) 0.578 0.808 3.7E-03
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 1987 1987
Entrez Id: 2994
Gene Symbol: GYPB
GYPB
glycophorin B (MNS blood group) 0.585 0.808 8.4E-05
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 1987 1987
Entrez Id: 2993
Gene Symbol: GYPA
GYPA
glycophorin A (MNS blood group) 0.538 0.885 1.1E-03
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 1987 1987
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
filamin A 0.419 0.846 1.00
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 1987 1987
Entrez Id: 5155
Gene Symbol: PDGFB
PDGFB
platelet derived growth factor subunit B 0.488 0.846 0.77
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 1987 1987
Entrez Id: 351
Gene Symbol: APP
APP
amyloid beta precursor protein 0.422 0.846 4.7E-02
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.100 None 0.982 109 1 1988 2020
Entrez Id: 6285
Gene Symbol: S100B
S100B
S100 calcium binding protein B 0.383 0.923 4.4E-02
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.100 None 1.000 22 0 1988 2019
Entrez Id: 6271
Gene Symbol: S100A1
S100A1
S100 calcium binding protein A1 0.421 0.846 6.0E-03
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.070 None 1.000 7 0 1988 2001
Entrez Id: 3689
Gene Symbol: ITGB2
ITGB2
integrin subunit beta 2 0.444 0.923 5.1E-15
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.020 None 1.000 2 0 1988 2016