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: C0001486
Disease: Adenovirus Infections
Adenovirus Infections
0.010 AlteredExpression group BEFREE There were increased levels of HNP-1, -3, and -4, but not HNP-2, in nasal aspirates (NAs) during adenovirus infections compared to healthy specimens (<i>p</i> ≤ 0.01). 30154940 2018
CUI: C0041912
Disease: Upper Respiratory Infections
Upper Respiratory Infections
0.010 Biomarker group BEFREE To investigate the release of HNP-1-4 in adenovirus infection and the relationship with self-limiting upper respiratory tract infections. 30154940 2018
CUI: C0149521
Disease: Pancreatitis, Chronic
Pancreatitis, Chronic
0.010 AlteredExpression disease BEFREE Spectrometry showed increased expression of HNP-1 in CP and even more in PDAC. 29683978 2018
Recurrent upper respiratory tract infection
0.010 Biomarker disease BEFREE To investigate the release of HNP-1-4 in adenovirus infection and the relationship with self-limiting upper respiratory tract infections. 30154940 2018
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
0.010 AlteredExpression disease BEFREE Spectrometry showed increased expression of HNP-1 in CP and even more in PDAC. 29683978 2018
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
0.010 Biomarker disease BEFREE PPBP and DEFA1/DEFA3 genes in hyperlipidaemia as feasible synergistic inflammatory biomarkers for coronary heart disease. 28420383 2017
CUI: C0031099
Disease: Periodontitis
Periodontitis
0.010 GeneticVariation disease BEFREE A locus at SIGLEC5 (sialic acid binding Ig-like lectin 5) and a chromosomal region downstream of the DEFA1A3 locus (defensin alpha 1-3) showed association with both disease phenotypes and were associated with periodontitis at a genome-wide significance level in the pooled samples, with P = 1.09E-08 (rs4284742,-G; OR = 1.34, 95% CI = 1.21-1.48) and P = 5.48E-10 (rs2738058,-T; OR = 1.28, 95% CI = 1.18-1.38), respectively. 28449029 2017
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.010 Biomarker disease BEFREE PPBP and DEFA1/DEFA3 genes in hyperlipidaemia as feasible synergistic inflammatory biomarkers for coronary heart disease. 28420383 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 AlteredExpression group BEFREE At least one member of the defensin family was expressed in each tumor cell line, whereby α-defensin (DEFA1), DEFA2, or DEFA3 transcripts could be ubiquitously detected. 26711780 2016
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3
0.010 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: C0009663
Disease: Condylomata Acuminata
Condylomata Acuminata
0.010 Biomarker disease BEFREE The therapeutic impact of HNP-1 in condyloma acuminatum. 25600882 2015
CUI: C0011847
Disease: Diabetes
Diabetes
0.010 GeneticVariation disease BEFREE Associations between DEFA1/DEFA3 gene copy number polymorphism and diabetes as well as between the promoter polymorphisms of DEFB1 and diabetes were studied. 25083086 2014
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.010 GeneticVariation group BEFREE Associations between DEFA1/DEFA3 gene copy number polymorphism and diabetes as well as between the promoter polymorphisms of DEFB1 and diabetes were studied. 25083086 2014
Diabetes Mellitus, Non-Insulin-Dependent
0.010 GeneticVariation disease BEFREE The copy number variation of the DEFA1/DEFA3 genes was determined in 257 diabetic patients (117 patients with type 1 and 140 with type 2 diabetes). 25083086 2014
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.010 AlteredExpression group BEFREE A decreased gene expression of DEFA 1/3 and 4 might protect pleomorphic adenomas from malignant transformation into adenocarcinomas. 23050799 2012
CUI: C0001429
Disease: Adenolymphoma
Adenolymphoma
0.010 Biomarker disease BEFREE A similar expression pattern of DEFA-1/3 and -4 in cystadenolymphomas and inflamed salivary glands underlines a potential importance of immunological reactions during the formation of Warthin's tumour. 23050799 2012
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome
0.010 GeneticVariation disease BEFREE Variable DEFA1 gene CNs were observed in both BD patients and HC and a high DEFA1 gene CN may be associated with susceptibility to intestinal involvement in BD. 22219625 2012
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.010 Biomarker group BEFREE In order to define new proliferation associated genes, purpose of this study was to investigate the expression of human α-defensins (DEFA) 1/3 and 4 in different tumour entities of the salivary glands with respect to malignancy. 23050799 2012
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease
0.010 Biomarker disease BEFREE Furthermore, higher expression of KLF9, SNAI1 and DEFA1 was found in ZZ COPD lungs without augmentation therapy relative to MM COPD or ZZ COPD with augmentation therapy. 22621770 2012
CUI: C0026277
Disease: Mixed Salivary Gland Tumor
Mixed Salivary Gland Tumor
0.010 AlteredExpression disease BEFREE A decreased gene expression of DEFA 1/3 and 4 might protect pleomorphic adenomas from malignant transformation into adenocarcinomas. 23050799 2012
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.010 Biomarker group BEFREE In order to define new proliferation associated genes, purpose of this study was to investigate the expression of human α-defensins (DEFA) 1/3 and 4 in different tumour entities of the salivary glands with respect to malignancy. 23050799 2012
CUI: C2363774
Disease: Neutrophilic asthma
Neutrophilic asthma
0.010 AlteredExpression disease BEFREE Systemic expression of DEFA1,1B,3,4,CTSG and ELA2 was significantly higher in the neutrophilic asthma (NA) phenotype. 21785157 2011
CUI: C1719672
Disease: Severe Sepsis
Severe Sepsis
0.010 Biomarker disease BEFREE This study was designed to determine whether DEFA1/DEFA3 copy number variations conferred susceptibility to infection-induced complications such as severe sepsis. 20502117 2010
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.010 AlteredExpression disease 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: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.010 AlteredExpression disease BEFREE Sera from SLE patients and healthy controls were tested for pro-inflammatory human beta-defensin 2 (hBD-2) and for alpha-defensin human neutrophil peptide 1 (HNP-1). hBD-2 could not be detected by enzyme-linked immunosorbent assay (ELISA) and its mRNA levels were low in SLE patients and similar to those found in controls. 19191901 2009