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: 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 Biomarker disease CTD_human A genome-wide association study identifies two new risk loci for Graves' disease. 21841780 2011
CUI: C0020550
Disease: Hyperthyroidism
Hyperthyroidism 		0.010 GeneticVariation disease BEFREE The C allele of rs3789604 (PTPN22) was a significant risk factor for LD-associated hyperthyroidism in GD patients, whereas C allele of GPR174 rs3827440 and G allele of RNASET2 rs9355610 appeared to be a protective factor for this disease. 28568286 2018
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.010 Biomarker disease BEFREE However, the vulnerability of the knockout rat hippocampus as evidenced by neuroinflammation, altered lysosomal function and cognitive defects indicates that this is still a useful <i>in vivo</i> model to study RNASET2 function. 29752287 2018
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		0.010 Biomarker group BEFREE RNASET2 was the only IBD risk-associated gene with >5-fold down-regulation in the IFNG-secreting subset. 28400196 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: C0023520
Disease: Leukodystrophy
Leukodystrophy 		0.020 Biomarker disease BEFREE Our patients illustrate the clinical and radiological overlap that can be seen between RNASET2-related leukodystrophy and AGS in some cases. 27091087 2016
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		0.020 Biomarker disease BEFREE The clinical data and magnetic resonance imaging (MRI) findings of previous reported individuals with RNASET2-deficient leukodystrophy were also reviewed and compared to the findings of our patient. 31349848 2019
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		0.050 Biomarker group BEFREE Defective RNASET2 leads to RNASET2-deficient leukoencephalopathy, a rare autosomal recessive neurogenetic disorder with psychomotor delay as its main clinical symptom. 31349848 2019
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		0.050 GeneticVariation group BEFREE Leukoencephalopathy with temporal lobe cysts may be associated with monogenetic conditions such as Aicardi-Goutières syndrome or RNASET2 mutations and with congenital infections such as cytomegalovirus. 27843092 2017
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		0.050 Biomarker group BEFREE RNASET2 deficiency in humans is associated with infant cystic leukoencephalopathy, which causes psychomotor impairment, spasticity and epilepsy. 29752287 2018
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		0.050 GeneticVariation group BEFREE RNASET2 mutation in humans is linked with a leukoencephalopathy that arises in infancy characterized by cortical cysts and multifocal white matter lesions. 21199949 2011
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		0.050 GeneticVariation group BEFREE Here we show that loss-of-function mutations in the gene encoding the RNASET2 glycoprotein lead to cystic leukoencephalopathy, an autosomal recessive disorder with an indistinguishable clinical and neuroradiological phenotype. 19525954 2009
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 A practical approach to diagnosing adult onset leukodystrophies. 24357685 2014
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 GeneticVariation disease CLINVAR
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 Biomarker disease CTD_human
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 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 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 CausalMutation disease CLINVAR
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: 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