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: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver
0.320 GeneticVariation disease BEFREE Dnase2<sup>-/-</sup> Ifnar<sup>-/-</sup> mice were shown to recapitulate many features of the DNase II-deficient patients including cytopenia, extramedullary hematopoiesis and liver fibrosis. 31464028 2020
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.230 GeneticVariation disease BEFREE Intriguingly, homozygosity for the RA associated DNASE2 -1066 G allele had an additive effect on the disease susceptibility conferred by the wt allele of CCR5 (OR = 2.24, P = 0.0051 for carrier of both RA associated alleles) 19538721 2009
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
0.100 GeneticVariation phenotype GWASDB Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. 19862010 2009
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
Corpuscular Hemoglobin Concentration Mean
0.100 GeneticVariation phenotype GWASDB Seventy-five genetic loci influencing the human red blood cell. 23222517 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 GeneticVariation disease BEFREE However, the effects of SNPs in DNL genes on overall survival of HCC patients receiving transarterial chemoembolization (TACE) treatment are still unknown. 25735330 2015
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: C0022658
Disease: Kidney Diseases
Kidney Diseases
0.010 GeneticVariation group BEFREE DNase II polymorphisms associated with risk of renal disorder among systemic lupus erythematosus patients. 15723160 2005
CUI: C3267073
Disease: Autoinflammatory disease
Autoinflammatory disease
0.010 GeneticVariation disease BEFREE Patients with hypomorphic mutations in DNase II develop a severe and debilitating autoinflammatory disease. 31464028 2020
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.330 Biomarker disease BEFREE Most Dnase1 and Dnase2 family members are poorly characterized, yet their elimination can lead to a wide range of diseases, including lethal anemia, parakeratosis, cataracts and systemic lupus erythematosus. 28666955 2017
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.330 Biomarker disease BEFREE Genetic associations of DNase II with SLE and related phenotypes were examined in Korean patients with SLE. 15723160 2005
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: 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
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
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: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.230 Biomarker disease MGD
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: C0003865
Disease: Arthritis, Adjuvant-Induced
Arthritis, Adjuvant-Induced
0.200 Biomarker disease CTD_mouse Cytokine-dependent but acquired immunity-independent arthritis caused by DNA escaped from degradation. 20974942 2010
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
0.200 Biomarker phenotype CTD_mouse Cytokine-dependent but acquired immunity-independent arthritis caused by DNA escaped from degradation. 20974942 2010
CUI: C0971858
Disease: Arthritis, Collagen-Induced
Arthritis, Collagen-Induced
0.200 Biomarker disease CTD_mouse Cytokine-dependent but acquired immunity-independent arthritis caused by DNA escaped from degradation. 20974942 2010
CUI: C0993582
Disease: Arthritis, Experimental
Arthritis, Experimental
0.200 Biomarker disease CTD_mouse Cytokine-dependent but acquired immunity-independent arthritis caused by DNA escaped from degradation. 20974942 2010
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: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.030 Biomarker group BEFREE In addition, if nucleases, such as DNase II or DNase III (Trex1), fail to clear self-DNA, accumulated DNA gains access to intracellular compartments where it drives inflammatory responses leading to autoimmune disease. 23417527 2013