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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 3105
Gene Symbol: HLA-A
HLA-A
major histocompatibility complex, class I, A 0.370 0.846 1.3E-03
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 1988 1988
Entrez Id: 3106
Gene Symbol: HLA-B
HLA-B
major histocompatibility complex, class I, B 0.379 0.885 3.9E-05
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 1988 1988
Entrez Id: 7306
Gene Symbol: TYRP1
TYRP1
tyrosinase related protein 1 0.507 0.846 6.6E-25
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 1988 1988
Entrez Id: 462
Gene Symbol: SERPINC1
SERPINC1
serpin family C member 1 0.507 0.769 1.00
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 1989 1989
Entrez Id: 142
Gene Symbol: PARP1
PARP1
poly(ADP-ribose) polymerase 1 0.389 0.923 3.3E-04
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 1989 1989
Entrez Id: 4342
Gene Symbol: MOS
MOS
MOS proto-oncogene, serine/threonine kinase 0.617 0.500 0.59
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 1989 1989
Entrez Id: 143
Gene Symbol: PARP4
PARP4
poly(ADP-ribose) polymerase family member 4 0.729 0.269 4.8E-27
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 1989 1989
Entrez Id: 5664
Gene Symbol: PSEN2
PSEN2
presenilin 2 0.550 0.654 5.4E-04
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 1990 1990
Entrez Id: 27087
Gene Symbol: B3GAT1
B3GAT1
beta-1,3-glucuronyltransferase 1 0.494 0.769 0.14
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 1991 1991
Entrez Id: 6962
Gene Symbol: TRBV20OR9-2
TRBV20OR9-2
T cell receptor beta variable 20/OR9-2 (non-functional) 0.403 0.923
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease 0.010 None 1.000 1 0 1992 1992