DEFA1, defensin alpha 1, 1667

N. diseases: 57; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.030 Biomarker disease BEFREE Alpha-defensins (α-Defs) in Crohn's disease: decrease of ileal α-Def 5 via permanent methylation and increase in plasma α-Def 1-3 concentrations offering biomarker utility. 29193023 2018
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.030 GeneticVariation disease BEFREE Higher DEFA1A3 gene copy number (CD: mean copy number, 7.2 vs. controls 6.7; P < 0.001) and individual DEFA1 alleles (CD mean copy number 5.6 vs. controls 5.1; P < 0.01) were associated with CD, with strong association with colonic location (P < 0.001). 21701837 2011
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.030 GeneticVariation disease BEFREE HNP-1 secretion depends on NOD2 stimulation by MDP-LD and contributes to antibacterial activity in intestinal epithelial cells expressing endogenous NOD2, but not NOD2 3020insC mutant associated with increased susceptibility to Crohn's disease. 19856414 2010
CUI: C3714514
Disease: Infection
Infection
0.030 Biomarker group LHGDN Human alpha-defensins inhibit BK virus infection by aggregating virions and blocking binding to host cells. 18782756 2008
CUI: C3714514
Disease: Infection
Infection
0.030 Biomarker group LHGDN Mechanism of adenovirus neutralization by Human alpha-defensins. 18191790 2008
CUI: C3714514
Disease: Infection
Infection
0.030 AlteredExpression group LHGDN CAF-mediated human immunodeficiency virus (HIV) type 1 transcriptional inhibition is distinct from alpha-defensin-1 HIV inhibition. 12767998 2003
CUI: C0009319
Disease: Colitis
Colitis
0.020 Biomarker disease BEFREE Injections of DEFA1 reduced the severity of spontaneous enteritis and DSS-induced colitis in Atf4ΔIEC mice. 30452920 2019
CUI: C1608408
Disease: Malignant transformation
Malignant transformation
0.020 Biomarker phenotype BEFREE Inflammatory regulation of HNP-1 in PDAC tissue and cells indicates that HNP-1 may be a link between chronic inflammation and malignant transformation in the pancreas. 29683978 2018
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.020 Biomarker disease BEFREE PPBP and DEFA1/DEFA3 genes in hyperlipidaemia as feasible synergistic inflammatory biomarkers for coronary heart disease. 28420383 2017
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.020 Biomarker phenotype BEFREE There was no observable influence of HNP-1 and LL-37 on tumor cell migration. 28910167 2017
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.020 AlteredExpression disease BEFREE The levels of hBD-2 and HNP 1-3 were significantly elevated in the sera and in the CSF of the AD patients These data suggest that both defensin β-2 and α-defensins have potential role in the development of AD. 27082275 2016
CUI: C0009319
Disease: Colitis
Colitis
0.020 Biomarker disease BEFREE Low physiological concentrations of HNP-1 did not significantly affect the expression levels of IL-1β, TNF-α, IL-6 or IL-10 in colonic lamina propria mononuclear cells activated with heat-killed Escherichia coli, suggesting that the anti-inflammatory effects of HNP-1 on murine colitis may not be exerted by direct action on intestinal macrophages. 27840892 2016
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.020 AlteredExpression disease BEFREE CHD development moderately correlated with α-defensin mRNA expression (r = 0.429, p = 0.023) and with plasma HNP 1-3 levels (r = 0.486, p = 0.000). 27430968 2016
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.020 Biomarker phenotype BEFREE In addition, we demonstrate that LysPG formation is essential for L. monocytogenes survival in the presence of increased osmolytic stress but has no effect on bacterial adherence, invasion or survival in the presence of physiologically relevant concentrations of human neutrophil peptide (HNP-1). 24603093 2014
CUI: C1608408
Disease: Malignant transformation
Malignant transformation
0.020 AlteredExpression phenotype BEFREE A decreased gene expression of DEFA 1/3 and 4 might protect pleomorphic adenomas from malignant transformation into adenocarcinomas. 23050799 2012
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.020 AlteredExpression phenotype BEFREE We have shown that Arf6 and its effector AMAP1 (DDEF1, DEF1, ASAP1 and centaurin beta4) are abnormally overexpressed in some breast cancers and used for their invasion and metastasis. 19416474 2009
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.020 AlteredExpression phenotype BEFREE We have shown that Arf6 and its effector AMAP1 (DDEF1, DEF1, ASAP1 and centaurin beta4) are abnormally overexpressed in some breast cancers and used for their invasion and metastasis. 19416474 2009
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.020 GeneticVariation disease BEFREE Instead, we observed a nonsignificant decrease in the Hp-1 gene frequency in the DAT population (0.34) as compared to our normal elderly comparison group (0.41). 3699841 1986
CUI: C0001342
Disease: Acute periodontitis
Acute periodontitis
0.010 Biomarker disease BEFREE Currently, three genes glycosyltransferase 6 domain containing 1 (GLT6D1), defensin α1 and α3 (DEFA1A3), and sialic acid-binding Ig-like lectin 5 (SIGLEC5) that reach the threshold for genomewide significance have been identified as genetic risk factors for AgP through a case-control GWAS. 30303256 2019
Diabetes Mellitus, Insulin-Dependent
0.010 Biomarker disease BEFREE In this study, immunohistochemistry was used to analyze the expression of seven anti-microbial peptides (Defensin α1, α4, β1-4 and Cathelicidin) and two secretory proteins with known antimicrobial properties (REG3A and GP2) in pancreatic and duodenal biopsies from 10 non-diabetic organ donors and one organ donor that died at onset of T1D. 31242128 2019
CUI: C0030499
Disease: Parasitic Diseases
Parasitic Diseases
0.010 Biomarker group BEFREE However, UV strongly activated SA-associated defense responses in def-1 after thrips infestation. 30782061 2019
CUI: C0031090
Disease: Periodontal Diseases
Periodontal Diseases
0.010 Biomarker group BEFREE Nonsmoking periodontal disease was associated with an abundance of neutrophil defensin 1 and cathelicidin. 30485856 2019
CUI: C0031106
Disease: Aggressive Periodontitis
Aggressive Periodontitis
0.010 Biomarker disease BEFREE Currently, three genes glycosyltransferase 6 domain containing 1 (GLT6D1), defensin α1 and α3 (DEFA1A3), and sialic acid-binding Ig-like lectin 5 (SIGLEC5) that reach the threshold for genomewide significance have been identified as genetic risk factors for AgP through a case-control GWAS. 30303256 2019
CUI: C0036690
Disease: Septicemia
Septicemia
0.010 Biomarker disease BEFREE We thus demonstrate that <i>DEFA1/DEFA3</i> copy number variation strongly modulates sepsis development in vivo and explore a paradigm for the precision treatment of sepsis tailored by individual genetic information. 30718392 2019
CUI: C0243026
Disease: Sepsis
Sepsis
0.010 Biomarker disease BEFREE We thus demonstrate that <i>DEFA1/DEFA3</i> copy number variation strongly modulates sepsis development in vivo and explore a paradigm for the precision treatment of sepsis tailored by individual genetic information. 30718392 2019