Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2623
Gene Symbol: GATA1
GATA1
0.400 Biomarker disease CTD_human
Entrez Id: 1637
Gene Symbol: DCR
DCR
0.360 Biomarker disease CTD_human
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
0.300 Biomarker disease MGD
Entrez Id: 952
Gene Symbol: CD38
CD38
0.010 GeneticVariation disease BEFREE Familial Down syndrome due to t(10;21) translocation: evidence that the Down phenotype is related to trisomy of a specific segment of chromosome 21. 125542 1975
Entrez Id: 3240
Gene Symbol: HP
HP
0.010 Biomarker disease BEFREE Using this material it was demonstrated that the anomalous Hp inheritance in Down's syndrome was not due simply to an increase in maternal age when the children were born. 131662 1976
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
0.040 Biomarker disease BEFREE Since the majority of the patients had a normal alpha-1-antitrypsin phenotype, the results of this study indicate that a deficiency in alpha-1-antitrypsin plays no role in the respiratory fragility of individuals with Down's syndrome. 135662 1976
Entrez Id: 590
Gene Symbol: BCHE
BCHE
0.030 GeneticVariation disease BEFREE Plasma cholinesterase polymorphism in Down's syndrome. 139357 1977
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
0.400 Biomarker disease BEFREE Assays of the activity of chromosome 21 determined superoxide dismutase-1 (SOD-1) in lymphocytes and polymorphonuclear granulocytes have demonstrated 38% and 40% increases, respectively, in cells from individuals with trisomy 21. 145179 1977
Entrez Id: 27297
Gene Symbol: CRCP
CRCP
0.010 GeneticVariation disease BEFREE Trisomy 9p and unusual translocation mongolism in siblings due to different 3:1 segregations of maternal translocation rcp(9;21)(p11;q11). 149755 1978
Entrez Id: 590
Gene Symbol: BCHE
BCHE
0.030 AlteredExpression disease BEFREE The mentally retarded patients have a higher mean pseudocholinesterase activity than those with Down's syndrome who, in turn, have activity than the healthy controls. 159860 1979
Entrez Id: 3930
Gene Symbol: LBR
LBR
0.010 Biomarker disease BEFREE To evaluate the effects of aging on cytogenetic characteristics of lymphocytes from Down syndrome (DS), cell-cycle kinetics after PHA stimulation and chromosome-type aberration frequencies after X-ray exposure were investigated in vitro in the lymphocytes derived from 4 (or 3 for X-ray treatment) age groups of DS patients and age-matched controls. 1372684 1992
Entrez Id: 3439
Gene Symbol: IFNA1
IFNA1
0.040 Biomarker disease BEFREE Down-regulation of the alpha-IFN receptors in trisomy 21 and normal cells was studied by incubating the cells with alpha-IFN. 1384107 1992
Entrez Id: 3447
Gene Symbol: IFNA13
IFNA13
0.040 Biomarker disease BEFREE Down-regulation of the alpha-IFN receptors in trisomy 21 and normal cells was studied by incubating the cells with alpha-IFN. 1384107 1992
Entrez Id: 10278
Gene Symbol: EFS
EFS
0.010 Biomarker disease BEFREE The EFS remained superior even when compared with non-DS children less than 2 years of age with a white blood cell count less than 10 x 100,000/microL (100% v 48% +/- 17.3%; P = .01). 1384797 1992
Entrez Id: 875
Gene Symbol: CBS
CBS
0.100 Biomarker disease BEFREE In order to clarify whether cystathionine beta-synthase (CBS) could differentiate groups of patients with various vascular diagnosis, CBS was studied in cultured human skin fibroblasts from 99 human subjects diagnosed as homozygotes or heterozygotes for CBS deficiency or suffering from atherosclerotic vascular disease or Down's syndrome (prone to less atherosclerosis). 1385957 1992
Entrez Id: 102724560
Gene Symbol: CBSL
CBSL
0.100 Biomarker disease BEFREE In order to clarify whether cystathionine beta-synthase (CBS) could differentiate groups of patients with various vascular diagnosis, CBS was studied in cultured human skin fibroblasts from 99 human subjects diagnosed as homozygotes or heterozygotes for CBS deficiency or suffering from atherosclerotic vascular disease or Down's syndrome (prone to less atherosclerosis). 1385957 1992
Entrez Id: 7124
Gene Symbol: TNF
TNF
0.070 AlteredExpression disease BEFREE Tumor necrosis factor-alpha and IFN-gamma expression in human thymus. Localization and overexpression in Down syndrome (trisomy 21). 1388194 1992
Entrez Id: 7124
Gene Symbol: TNF
TNF
0.070 Biomarker disease BEFREE A role for tumor necrosis factor-alpha and interferon-gamma in the regulation of interleukin-4-induced human thymocyte proliferation in vitro. Heightened sensitivity in the Down syndrome (trisomy 21) thymus. 1408461 1992
Entrez Id: 3458
Gene Symbol: IFNG
IFNG
0.040 Biomarker disease BEFREE A role for tumor necrosis factor-alpha and interferon-gamma in the regulation of interleukin-4-induced human thymocyte proliferation in vitro. Heightened sensitivity in the Down syndrome (trisomy 21) thymus. 1408461 1992
Entrez Id: 3565
Gene Symbol: IL4
IL4
0.010 AlteredExpression disease BEFREE A role for tumor necrosis factor-alpha and interferon-gamma in the regulation of interleukin-4-induced human thymocyte proliferation in vitro. Heightened sensitivity in the Down syndrome (trisomy 21) thymus. 1408461 1992
Entrez Id: 2114
Gene Symbol: ETS2
ETS2
0.100 Biomarker disease BEFREE New chromosome 21 DNA markers isolated by pulsed field gel electrophoresis from an ETS2-containing Down syndrome chromosomal region. 1483701 1992
Entrez Id: 2215
Gene Symbol: FCGR3B
FCGR3B
0.010 Biomarker disease BEFREE Thus, we examined the surface expression of TCR alpha, beta and CD3 as well as TCR gamma, delta, CD4, CD8, CD16, and CD45RA on peripheral blood lymphocytes (PBL) from 13 noninstitutionalized subjects with DS and 13 closely age-matched sibling controls using immunofluorescence and flow cytometry. 1530912 1992
Entrez Id: 6962
Gene Symbol: TRBV20OR9-2
TRBV20OR9-2
0.010 Biomarker disease BEFREE Thus, we examined the surface expression of TCR alpha, beta and CD3 as well as TCR gamma, delta, CD4, CD8, CD16, and CD45RA on peripheral blood lymphocytes (PBL) from 13 noninstitutionalized subjects with DS and 13 closely age-matched sibling controls using immunofluorescence and flow cytometry. 1530912 1992
Entrez Id: 2214
Gene Symbol: FCGR3A
FCGR3A
0.010 Biomarker disease BEFREE Thus, we examined the surface expression of TCR alpha, beta and CD3 as well as TCR gamma, delta, CD4, CD8, CD16, and CD45RA on peripheral blood lymphocytes (PBL) from 13 noninstitutionalized subjects with DS and 13 closely age-matched sibling controls using immunofluorescence and flow cytometry. 1530912 1992
Entrez Id: 966
Gene Symbol: CD59
CD59
0.020 Biomarker disease BEFREE Results showed that individuals without DS had statistically significant (P less than 0.01) higher mean peak VO2 (35.6 vs 24.6 ml.kg-1.min-1; 2567 vs 1683 ml.min-1), VE (89.3 vs 59.2 1/min-1), and HR (179 vs 159 b.min-1) than individuals with DS, respectively. 1532223 1992