DEFB126, defensin beta 126, 81623

N. diseases: 11; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0729353
Disease: Subfertility
Subfertility 		0.030 Biomarker disease BEFREE Further validation showed that these lectins, especially ABA and MPL, can be potential biomarkers for clinical diagnosis of subfertility due to the mutation of DEFB126. 26832966 2016
CUI: C0729353
Disease: Subfertility
Subfertility 		0.030 GeneticVariation disease BEFREE DEFB126 rs140685149 mutation was shown to cause sperm dysfunction and subfertility. 25721098 2015
CUI: C0729353
Disease: Subfertility
Subfertility 		0.030 GeneticVariation disease BEFREE A common mutation in the defensin DEFB126 causes impaired sperm function and subfertility. 21775668 2011
CUI: C0021364
Disease: Male infertility
Male infertility 		0.020 GeneticVariation phenotype BEFREE The role of DEFB126 variation in male infertility and medically assisted reproduction technique outcome. 31474436 2019
CUI: C0021364
Disease: Male infertility
Male infertility 		0.020 GeneticVariation phenotype BEFREE In conclusion, our study presented a significant contribution of another functional frame-shift polymorphism of DEFB126 (rs11467497) to male infertility. 25721098 2015
CUI: C0042341
Disease: Varicocele
Varicocele 		0.010 Biomarker disease BEFREE Additional studies indicated that the proportion of DEFB126-positive spermatozoa in fertile volunteers was significantly higher than in volunteers with varicocele, and in infertile volunteers with semen deficiencies. 31504198 2020
CUI: C0848676
Disease: Subfertility, Male
Subfertility, Male 		0.010 GeneticVariation phenotype BEFREE DEFB126 was reported to contribute to the sialylation on sperm surface and its homozygous mutation was related to male subfertility. 26832966 2016
CUI: C0024301
Disease: Lymphoma, Follicular
Lymphoma, Follicular 		0.010 GeneticVariation disease BEFREE We also observed an increased risk of FL for DEFB126 rs6054706 (allele risk OR = 1.39, P-trend = 0.033). 23055202 2013
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin 		0.010 GeneticVariation disease BEFREE A gene-based analysis that adjusted for the number of tagSNPs genotyped in each gene showed a significant association with overall NHL for the MBP gene (P = 0.028), with the diffuse large B-cell lymphoma (DLBCL) subtype for the MASP2 gene (P = 0.011), and with the follicular lymphoma (FL) subtype for DEFB126 (P = 0.041). 23055202 2013
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma 		0.010 Biomarker disease BEFREE A gene-based analysis that adjusted for the number of tagSNPs genotyped in each gene showed a significant association with overall NHL for the MBP gene (P = 0.028), with the diffuse large B-cell lymphoma (DLBCL) subtype for the MASP2 gene (P = 0.011), and with the follicular lymphoma (FL) subtype for DEFB126 (P = 0.041). 23055202 2013
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.010 Biomarker disease BEFREE Analyses restricted to glioblastoma (n = 254) yielded significant associations for the SELP, DEFB126/127, SERPINI1, and LY96 genetic regions. 19423540 2009
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		0.010 Biomarker disease BEFREE Analyses restricted to glioblastoma (n = 254) yielded significant associations for the SELP, DEFB126/127, SERPINI1, and LY96 genetic regions. 19423540 2009
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.010 Biomarker disease BEFREE Analyses restricted to glioblastoma (n = 254) yielded significant associations for the SELP, DEFB126/127, SERPINI1, and LY96 genetic regions. 19423540 2009
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.010 Biomarker disease BEFREE Analyses restricted to glioblastoma (n = 254) yielded significant associations for the SELP, DEFB126/127, SERPINI1, and LY96 genetic regions. 19423540 2009