CD28, CD28 molecule, 940

N. diseases: 364; N. variants: 11
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs35593994
rs35593994
Entrez Id: 940
Gene Symbol: CD28
CD28
CUI: C0002895
Disease:
Anemia, Sickle Cell
0.010 GeneticVariation BEFREE We hypothesize that there is a significant interethnic diversity in the CD14 (rs2569190), CD28 (rs35593994), CTLA-4 (rs5742909) and ICOS (rs4404254) gene polymorphisms among and between SCD groups. 31474499 2019
dbSNP: rs201909740
rs201909740
Entrez Id: 940
Gene Symbol: CD28
CD28
CUI: C0004364
Disease:
Autoimmune Diseases
0.010 GeneticVariation BEFREE Collectively, these results implicate NETs and the Act1 D10N variant in human Th17 induction from peripheral blood mononuclear cells, with ramifications for immunogenetic studies of psoriasis and other autoimmune diseases. 30528823 2019
dbSNP: rs3116496
rs3116496
Entrez Id: 940
Gene Symbol: CD28
CD28
CUI: C0678222
Disease:
Breast Carcinoma
0.030 GeneticVariation BEFREE CONCLUSIONS Our meta-analysis confirmed that rs3116496 was significantly related to cancer risk, especially in an Asian population, and was strongly correlated with the increased risk of breast cancer, leukemia and colorectal cancer. 30867406 2019
dbSNP: rs3116496
rs3116496
Entrez Id: 940
Gene Symbol: CD28
CD28
CUI: C0678222
Disease:
Breast Carcinoma
0.030 GeneticVariation BEFREE In conclusion, CD28 may be a tumor suppressor gene and rs3116496</span> polymorphism of <i>CD28</i> gene showed positively correlation with the increased risk of BC. 29089469 2017
dbSNP: rs3116496
rs3116496
Entrez Id: 940
Gene Symbol: CD28
CD28
CUI: C0678222
Disease:
Breast Carcinoma
0.030 GeneticVariation BEFREE A statistically significant association was observed between rs3116496 and breast cancer risk under different genetic models (additive P = 0.0164, dominant P = 0.0042). 23133541 2012
dbSNP: rs3116494
rs3116494
Entrez Id: 940
Gene Symbol: CD28
CD28
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE In addition, significant associations were observed between rs3116487/rs3116494 (D' = 1, r(2) = 0.99) and clinicopathological features such as C-erbB2 and ER status, in breast cancer patients. 23133541 2012
dbSNP: rs45620941
rs45620941
Entrez Id: 940
Gene Symbol: CD28
CD28
CUI: C0007570
Disease:
Celiac Disease
0.700 GeneticVariation GWASCAT Common polygenic variation in coeliac disease and confirmation of ZNF335 and NIFA as disease susceptibility loci. 25920553 2016
dbSNP: rs3116496
rs3116496
Entrez Id: 940
Gene Symbol: CD28
CD28
CUI: C1332977
Disease:
Childhood Leukemia
0.010 GeneticVariation BEFREE CONCLUSIONS Our meta-analysis confirmed that rs3116496 was significantly related to cancer risk, especially in an Asian population, and was strongly correlated with the increased risk of breast cancer, leukemia and colorectal cancer. 30867406 2019
dbSNP: rs3116496
rs3116496
Entrez Id: 940
Gene Symbol: CD28
CD28
CUI: C0009402
Disease:
Colorectal Carcinoma
0.010 GeneticVariation BEFREE After PHWE<0.05 was deleted, the analysis showed that rs3116496 might be related to the increased risk of colorectal cancer. 30867406 2019
dbSNP: rs1033252267
rs1033252267
Entrez Id: 940
Gene Symbol: CD28
CD28
CUI: C0013575
Disease:
Ectodermal Dysplasia
0.010 GeneticVariation BEFREE We describe a previously unreported 437 T→G missense mutation producing a V146G substitution in the first coiled-coil (CC1) domain of nuclear factor-κB essential modulator (NEMO) in a 9-month-old boy with ectodermal dysplasia with immunodeficiency who presented with methicillin-resistant Staphylococcus aureus subdural empyema. 20652730 2010
dbSNP: rs55730955
rs55730955
Entrez Id: 940
Gene Symbol: CD28
CD28
CUI: C0013595
Disease:
Eczema
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs1033252267
rs1033252267
Entrez Id: 940
Gene Symbol: CD28
CD28
CUI: C0038539
Disease:
Empyema, Subdural
0.010 GeneticVariation BEFREE We describe a previously unreported 437 T→G missense mutation producing a V146G substitution in the first coiled-coil (CC1) domain of nuclear factor-κB essential modulator (NEMO) in a 9-month-old boy with ectodermal dysplasia with immunodeficiency who presented with methicillin-resistant Staphylococcus aureus subdural empyema. 20652730 2010
dbSNP: rs4675360
rs4675360
Entrez Id: 940
Gene Symbol: CD28
CD28
CUI: C0200638
Disease:
Eosinophil count procedure
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs3116494
rs3116494
Entrez Id: 940
Gene Symbol: CD28
CD28
CUI: C0021390
Disease:
Inflammatory Bowel Diseases
G 0.700 GeneticVariation GWASCAT Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. 26192919 2015
dbSNP: rs3116496
rs3116496
Entrez Id: 940
Gene Symbol: CD28
CD28
CUI: C0023418
Disease:
leukemia
0.010 GeneticVariation BEFREE CONCLUSIONS Our meta-analysis confirmed that rs3116496 was significantly related to cancer risk, especially in an Asian population, and was strongly correlated with the increased risk of breast cancer, leukemia and colorectal cancer. 30867406 2019
dbSNP: rs3116496
rs3116496
Entrez Id: 940
Gene Symbol: CD28
CD28
CUI: C2239176
Disease:
Liver carcinoma
0.010 GeneticVariation BEFREE However, <i>ICOS</i> rs4404254 T>C, CD28 rs3116496 T>C and CD80 rs7628626 C>A SNPs were not associated with the risk of HCC. 31235485 2019
dbSNP: rs3116496
rs3116496
Entrez Id: 940
Gene Symbol: CD28
CD28
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.030 GeneticVariation BEFREE CONCLUSIONS Our meta-analysis confirmed that rs3116496 was significantly related to cancer risk, especially in an Asian population, and was strongly correlated with the increased risk of breast cancer, leukemia and colorectal cancer. 30867406 2019
dbSNP: rs3116496
rs3116496
Entrez Id: 940
Gene Symbol: CD28
CD28
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.030 GeneticVariation BEFREE A statistically significant association was observed between rs3116496 and breast cancer risk under different genetic models (additive P = 0.0164, dominant P = 0.0042). 23133541 2012
dbSNP: rs3116496
rs3116496
Entrez Id: 940
Gene Symbol: CD28
CD28
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.030 GeneticVariation BEFREE In conclusion, CD28 may be a tumor suppressor gene and rs3116496</span> polymorphism of <i>CD28</i> gene showed positively correlation with the increased risk of BC. 29089469 2017
dbSNP: rs3116494
rs3116494
Entrez Id: 940
Gene Symbol: CD28
CD28
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE In addition, significant associations were observed between rs3116487/rs3116494 (D' = 1, r(2) = 0.99) and clinicopathological features such as C-erbB2 and ER status, in breast cancer patients. 23133541 2012
dbSNP: rs3116496
rs3116496
Entrez Id: 940
Gene Symbol: CD28
CD28
CUI: C4722085
Disease:
Malignant neoplasm of colon and/or rectum
0.010 GeneticVariation BEFREE After PHWE<0.05 was deleted, the analysis showed that rs3116496 might be related to the increased risk of colorectal cancer. 30867406 2019
dbSNP: rs3116496
rs3116496
Entrez Id: 940
Gene Symbol: CD28
CD28
CUI: C0006826
Disease:
Malignant Neoplasms
0.030 GeneticVariation BEFREE The results indicated that CD28 T > C polymorphism (rs3116496) was not associated with the risk of cancer in overall population (CC + CT vs. TT, OR = 1.17, 95 %CI = 0.94-1.47, P H = 0.00; CC vs. CT + TT, OR = 1.26, 95 %CI = 0.92-1.73, P H = 0.86; CC vs. TT, OR = 1.27, 95 %CI = 0.92-1.74, P H = 0.85; CT vs. TT, OR = 1.15, 95 %CI = 0.91-1.46, P H = 0.00; and C vs. T, OR = 1.17, 95 %CI = 0.97-1.41, P H = 0.00). 24927673 2014
dbSNP: rs3116496
rs3116496
Entrez Id: 940
Gene Symbol: CD28
CD28
CUI: C0006826
Disease:
Malignant Neoplasms
0.030 GeneticVariation BEFREE CONCLUSIONS Our meta-analysis confirmed that rs3</span>116496 was significantly related to cancer risk, especially in an Asian population, and was strongly correlated with the increased risk of breast cancer, leukemia and colorectal cancer. 30867406 2019
dbSNP: rs3116496
rs3116496
Entrez Id: 940
Gene Symbol: CD28
CD28
CUI: C0006826
Disease:
Malignant Neoplasms
0.030 GeneticVariation BEFREE CD28 polymorphism, rs3116496, contributes to cancer susceptibility in the case of multiple cancers. 25534869 2015
dbSNP: rs200751829
rs200751829
Entrez Id: 940
Gene Symbol: CD28
CD28
CUI: C0025221
Disease:
Meleda Disease
0.010 GeneticVariation BEFREE Patients with MDM with the homozygous SLURP-1 G86R mutation may have an impaired T-cell activation. 20854438 2011