DNASE2, deoxyribonuclease 2, lysosomal, 1777

N. diseases: 29; N. variants: 6
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.100 GeneticVariation phenotype GWASDB Seventy-five genetic loci influencing the human red blood cell. 23222517 2012
CUI: C0040896
Disease: Trichinellosis
Trichinellosis 		0.010 Biomarker disease BEFREE Several enzymes (e.g., adult-specific DNase II, serine protease and serine protease inhibitor) could be the invasion-related proteins and early diagnostic markers for trichinellosis.Moreover, recombinant <i>T. spiralis</i> serine protease (rTsSP-ZH68) was expressed in <i>E. coli</i> and its antigenicity was analyzed by Western blot with the early infection sera. 28620363 2017
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.230 AlteredExpression disease BEFREE Since the three SNPs in the promoter region of the DNase II gene could affect in vivo DNase II activity through reduction of the promoter activity, it is feasible to identify these SNPs susceptible to RA. 23019102 2012
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.020 GeneticVariation group BEFREE Single nucleotide polymorphisms (SNPs) of DNL genes have been reported to be associated with prognosis of some malignancies. 25735330 2015
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.020 Biomarker disease BEFREE SNPs in DNL genes may serve as independent prognostic markers for HCC patients after surgery. 25826294 2015
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.230 Biomarker disease BEFREE The association of DNASE2 -1066 GG homozygosity with RA was limited to rheumatoid factor-positive disease, but was not influenced by the presence of anti-cyclic citrullinated peptide or antinuclear antibodies. 18812394 2009
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		0.030 Biomarker group BEFREE The association of SNPs in the 5'-regulatory region of the DNA degrading enzyme DNASE2 with RA implies a role for this enzyme in the pathogenesis of this autoimmune disease. 18812394 2009
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.020 Biomarker group BEFREE The inhibitory action on DNL exerted by T2 makes this compound a potential and attractive drug for the treatment of some metabolic diseases and cancer. 28362337 2017
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 Biomarker group BEFREE The inhibitory action on DNL exerted by T2 makes this compound a potential and attractive drug for the treatment of some metabolic diseases and cancer. 28362337 2017
CUI: C0030436
Disease: Parakeratosis
Parakeratosis 		0.010 Biomarker disease BEFREE The results of this study suggest that cornification of epidermal keratinocytes depends on the cooperation of DNase1L2 and DNase2 and indicate that parakeratosis per se does not suffice to cause skin pathologies. 28743926 2017
CUI: C0004623
Disease: Bacterial Infections
Bacterial Infections 		0.010 GeneticVariation group BEFREE This accumulation of DNA in the DNase II mutants caused the constitutive expression of the antibacterial genes for diptericin and attacin, which are usually activated during bacterial infection. 12381665 2002
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		0.030 Biomarker group BEFREE To continue our previous investigations, we have extensively investigated the function of the 61, 41, and 35 non-synonymous single nucleotide polymorphisms (SNPs) in the human genes encoding DNASE1, DNASE1L3, and DNASE2, respectively, potentially relevant to autoimmune diseases. 27116004 2016
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.330 Biomarker disease GENOMICS_ENGLAND Type I interferon-mediated autoinflammation due to DNase II deficiency. 29259162 2017
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		0.320 Biomarker disease GENOMICS_ENGLAND Type I interferon-mediated autoinflammation due to DNase II deficiency. 29259162 2017
CUI: C0017662
Disease: Glomerulonephritis, Membranoproliferative
Glomerulonephritis, Membranoproliferative 		0.300 Biomarker disease GENOMICS_ENGLAND Type I interferon-mediated autoinflammation due to DNase II deficiency. 29259162 2017
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder 		0.300 Biomarker disease GENOMICS_ENGLAND Type I interferon-mediated autoinflammation due to DNase II deficiency. 29259162 2017
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.330 Biomarker disease BEFREE We describe a 17-year-old boy with DNase II deficiency, presenting a clinical picture with significant overlap with systemic lupus erythematosus. 31448075 2020