RNASET2, ribonuclease T2, 8635

N. diseases: 46; N. variants: 7
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2751843
Disease: Leukoencephalopathy, Cystic, Without Megalencephaly
Leukoencephalopathy, Cystic, Without Megalencephaly 		0.710 GeneticVariation disease BEFREE Cystic leukoencephalopathy without megalencephaly is a disorder related in some cases to RNASET2 mutations and characterized by bilateral anterior temporal subcortical cysts and multifocal lobar white matter lesions with sparing of central white matter structures. 27091087 2016
CUI: C2751843
Disease: Leukoencephalopathy, Cystic, Without Megalencephaly
Leukoencephalopathy, Cystic, Without Megalencephaly 		0.710 Biomarker disease GENOMICS_ENGLAND A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies. 25655951 2015
CUI: C2751843
Disease: Leukoencephalopathy, Cystic, Without Megalencephaly
Leukoencephalopathy, Cystic, Without Megalencephaly 		0.710 Biomarker disease GENOMICS_ENGLAND A practical approach to diagnosing adult onset leukodystrophies. 24357685 2014
CUI: C2751843
Disease: Leukoencephalopathy, Cystic, Without Megalencephaly
Leukoencephalopathy, Cystic, Without Megalencephaly 		0.710 GeneticVariation disease UNIPROT rnaset2 mutant zebrafish model familial cystic leukoencephalopathy and reveal a role for RNase T2 in degrading ribosomal RNA. 21199949 2011
CUI: C2751843
Disease: Leukoencephalopathy, Cystic, Without Megalencephaly
Leukoencephalopathy, Cystic, Without Megalencephaly 		0.710 GermlineCausalMutation disease ORPHANET RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection. 19525954 2009
CUI: C2751843
Disease: Leukoencephalopathy, Cystic, Without Megalencephaly
Leukoencephalopathy, Cystic, Without Megalencephaly 		0.710 Biomarker disease GENOMICS_ENGLAND RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection. 19525954 2009
CUI: C2751843
Disease: Leukoencephalopathy, Cystic, Without Megalencephaly
Leukoencephalopathy, Cystic, Without Megalencephaly 		0.710 GeneticVariation disease UNIPROT RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection. 19525954 2009
CUI: C2751843
Disease: Leukoencephalopathy, Cystic, Without Megalencephaly
Leukoencephalopathy, Cystic, Without Megalencephaly 		0.710 GeneticVariation disease CLINVAR
CUI: C2751843
Disease: Leukoencephalopathy, Cystic, Without Megalencephaly
Leukoencephalopathy, Cystic, Without Megalencephaly 		0.710 Biomarker disease CTD_human
CUI: C2751843
Disease: Leukoencephalopathy, Cystic, Without Megalencephaly
Leukoencephalopathy, Cystic, Without Megalencephaly 		0.710 CausalMutation disease CLINVAR
CUI: C0018213
Disease: Graves Disease
Graves Disease 		0.320 GeneticVariation disease BEFREE This study was designed to unveil the association of GPR174 rs3827440, PTPN22 rs3789604, and RNASET2 rs9355610 with the onset of liver damage (LD) among the Graves' disease (GD) patients. 28568286 2018
CUI: C0018213
Disease: Graves Disease
Graves Disease 		0.320 GeneticVariation disease BEFREE Our results suggest that the rs9355610 tag SNP of RNASET2 gene is positively associated with susceptibility to GD in the Chinese Han population. 25928629 2015
CUI: C0018213
Disease: Graves Disease
Graves Disease 		0.320 Biomarker disease CTD_human A genome-wide association study identifies two new risk loci for Graves' disease. 21841780 2011
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms 		0.300 Biomarker group CTD_human Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes. 28604730 2017
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.300 Biomarker disease CTD_human Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes. 28604730 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.300 Biomarker group GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C0006111
Disease: Brain Diseases
Brain Diseases 		0.300 Biomarker group CTD_human Congenital cytomegalovirus infection and RNASET2 deficiency may both interfere with brain development and myelination through angiogenesis or RNA metabolism. 19525954 2009
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.300 Biomarker group CTD_human RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection. 19525954 2009
CUI: C0042900
Disease: Vitiligo
Vitiligo 		0.110 GeneticVariation disease GWASCAT Genome-wide association studies of autoimmune vitiligo identify 23 new risk loci and highlight key pathways and regulatory variants. 27723757 2016
CUI: C0042900
Disease: Vitiligo
Vitiligo 		0.110 Biomarker disease BEFREE Thus, RNASET2 may contribute to vitiligo pathogenesis by inhibiting TRAF2 expression and, as such, RNASET2 may represent a potential therapeutic target of vitiligo. 24457966 2014
CUI: C0042900
Disease: Vitiligo
Vitiligo 		0.110 GeneticVariation disease GWASCAT Genome-wide association study for vitiligo identifies susceptibility loci at 6q27 and the MHC. 20526339 2010
CUI: C0042900
Disease: Vitiligo
Vitiligo 		0.110 GeneticVariation disease GWASDB Genome-wide association study for vitiligo identifies susceptibility loci at 6q27 and the MHC. 20526339 2010
CUI: C0015944
Disease: Fetal Membranes, Premature Rupture
Fetal Membranes, Premature Rupture 		0.100 GeneticVariation phenotype GWASCAT A genome-wide association study of early spontaneous preterm delivery. 25599974 2015
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement 		0.100 GeneticVariation phenotype GWASDB The combination of a genome-wide association study of lymphocyte count and analysis of gene expression data reveals novel asthma candidate genes. 22286170 2012
CUI: C1848207
Disease: Poor speech
Poor speech 		0.100 Biomarker phenotype HPO