DEFB104A, defensin beta 104A, 140596

N. diseases: 43; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0033860
Disease: Psoriasis
Psoriasis
0.030 AlteredExpression disease BEFREE Four genes (IL22RA1, KRT17, DEFB4 and TSLP), known to be upregulated in psoriatic lesions, and thereby key players in psoriasis pathogenesis were selected. 28833576 2018
CUI: C0033860
Disease: Psoriasis
Psoriasis
0.030 Biomarker disease BEFREE We explored the potential benefits of targeting hBD-2 by topical application of DEFB4-siRNA-containing SECosomes in a bioengineered skin-humanized mouse model for psoriasis. 24428418 2014
CUI: C0033860
Disease: Psoriasis
Psoriasis
0.030 Biomarker disease BEFREE Increased DEFB4 copy number is a susceptibility factor for psoriasis, whereas a single study in a Crohn's disease (CD) cohort reported that decreased DEFB4 copy number is associated with colonic inflammation. 19809410 2010
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.020 Biomarker disease BEFREE DEFB4 genomic copy number did not differ by disease location within the CD cohort (P=0.948), nor did analysis of CD patients who had undergone surgery detect association of decreased DEFB4 genomic copy number (<4) in colonic CD compared with ileal CD (P=0.120). 19809410 2010
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.020 AlteredExpression disease BEFREE Intestinal specimens from patients with ulcerative colitis (UC), Crohn's disease (CD) and controls with no history of inflammatory bowel disease were studied. hBD-3 and hBD-4 mRNAs were determined in freshly isolated epithelial cells by real-time quantitative reverse transcription-polymerase chain reaction (QRT-PCR) and by in situ hybridization. 15270856 2004
CUI: C0037284
Disease: Skin lesion
Skin lesion
0.010 AlteredExpression group BEFREE Cutaneous antimicrobial peptide genesS100A8, S100A9, and Defb4 were reduced in WD-fed mice, but increased when mice developed skin lesions. 31213388 2019
Infection caused by Helicobacter pylori
0.010 Biomarker disease BEFREE We studied the expression of HBD2 (gene name DEFB4A), HBD3 (DEFB103A), and HBD4 (DEFB104) using real-time PCR in 15 control and 10 H. pylori infection patient gastric specimens. 31537016 2019
CUI: C0566602
Disease: Primary sclerosing cholangitis
Primary sclerosing cholangitis
0.010 GeneticVariation disease BEFREE However, no significant differences between the frequencies of high DEFB4 gene copy number, defined by >4 copies, and PSC were found in the US, Italian, or combined cohorts. 28300822 2017
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.010 GeneticVariation disease BEFREE Higher copy numbers of the DEFB4 gene was observed in AD patients as compared with the controls. 27082275 2016
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
0.010 Biomarker disease BEFREE P values of χ(2) trend test for the association of DEFB4_1 and DEFB4_2 with AS were 0.607 and 0.005, respectively. 26025437 2016
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3
0.010 GeneticVariation disease BEFREE Higher copy numbers of the DEFB4 gene was observed in AD patients as compared with the controls. 27082275 2016
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.010 AlteredExpression disease BEFREE This study was designed to analyze the expression and genetic variations in hBDs (hBD-1, hBD-2, hBD-3 and hBD-4) and their putative association with colon cancer. hBD gene expression and relative protein expression were evaluated by Real-Time polymerase chain reaction (qPCR) and immunohistochemistry, respectively, from 40 normal patients and 40 age-matched patients with colon cancer in Saudi Arabia. 26038828 2015
CUI: C0011636
Disease: Dermatophytosis
Dermatophytosis
0.010 AlteredExpression disease BEFREE Low DEFB4 copy number and high systemic hBD-2 and IL-22 levels are associated with dermatophytosis. 25178103 2015
CUI: C0040247
Disease: Tinea
Tinea
0.010 AlteredExpression disease BEFREE Low DEFB4 copy number and high systemic hBD-2 and IL-22 levels are associated with dermatophytosis. 25178103 2015
CUI: C0040253
Disease: Tinea of perianal region
Tinea of perianal region
0.010 Biomarker disease BEFREE DEFB4 CN in patients was significantly lower and, except in the tinea cruris subgroup, serum hBD-2 levels were higher than in controls. 25178103 2015
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.010 AlteredExpression disease BEFREE This study was designed to analyze the expression and genetic variations in hBDs (hBD-1, hBD-2, hBD-3 and hBD-4) and their putative association with colon cancer. hBD gene expression and relative protein expression were evaluated by Real-Time polymerase chain reaction (qPCR) and immunohistochemistry, respectively, from 40 normal patients and 40 age-matched patients with colon cancer in Saudi Arabia. 26038828 2015
CUI: C1384589
Disease: Tinea cruris
Tinea cruris
0.010 Biomarker disease BEFREE DEFB4 CN in patients was significantly lower and, except in the tinea cruris subgroup, serum hBD-2 levels were higher than in controls. 25178103 2015
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 Biomarker group BEFREE Moreover, Defb4 silencing in vitro suppresses the tumor cell proliferation, mobility and invasion in esophageal SCC cell line KYSE-150. 25226614 2014
CUI: C0041296
Disease: Tuberculosis
Tuberculosis
0.010 AlteredExpression disease BEFREE IL-32 induced the vitamin D-dependent antimicrobial peptides cathelicidin and DEFB4 and to generate antimicrobial activity in vitro, dependent on the presence of adequate 25-hydroxyvitamin D. In addition, the IL-15-induced defense response macrophage gene network was integrated with ranked pairwise comparisons of gene expression from five different clinical data sets of latent compared with active tuberculosis or healthy controls and a coexpression network derived from gene expression in patients with tuberculosis undergoing chemotherapy. 25143364 2014
CUI: C0151332
Disease: Active tuberculosis
Active tuberculosis
0.010 AlteredExpression disease BEFREE IL-32 induced the vitamin D-dependent antimicrobial peptides cathelicidin and DEFB4 and to generate antimicrobial activity in vitro, dependent on the presence of adequate 25-hydroxyvitamin D. In addition, the IL-15-induced defense response macrophage gene network was integrated with ranked pairwise comparisons of gene expression from five different clinical data sets of latent compared with active tuberculosis or healthy controls and a coexpression network derived from gene expression in patients with tuberculosis undergoing chemotherapy. 25143364 2014
Squamous cell carcinoma of esophagus
0.010 Biomarker disease BEFREE Moreover, Defb4 silencing in vitro suppresses the tumor cell proliferation, mobility and invasion in esophageal SCC cell line KYSE-150. 25226614 2014
CUI: C0747085
Disease: Recurrent otitis media
Recurrent otitis media
0.010 Biomarker disease BEFREE As there is increasing evidence that aberrant defensin expression is related to susceptibility for infectious disease and inflammatory disorders, we sought to determine if copy number of the beta-defensin gene cluster located on chromosome 8p23.1 (DEFB107, 106, 105, 104, 103, DEFB4 and SPAG11), that shows copy number variation as a block, was associated with susceptibility to otitis media (OM). 24867293 2014
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.010 Biomarker phenotype BEFREE Moreover, Defb4 silencing in vitro suppresses the tumor cell proliferation, mobility and invasion in esophageal SCC cell line KYSE-150. 25226614 2014
CUI: C1456868
Disease: Diabetic foot ulcer
Diabetic foot ulcer
0.010 Biomarker disease BEFREE The results show that primary culture from DFU treated with 1,25(OH)2D3, increased DEFB4 and CAMP gene expression and increased the production of HBD-2 and LL-37 in the culture supernatant. 25337708 2014
CUI: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix
0.010 GeneticVariation disease BEFREE A lower DEFB4 copy number was associated with susceptibility to cervical cancer. 23466823 2013