RNASET2, ribonuclease T2, 8635

N. diseases: 46; N. variants: 7
Disease: Congenital infectious disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0275544
Disease: Congenital infectious disease
Congenital infectious disease 		0.020 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: C0275544
Disease: Congenital infectious disease
Congenital infectious disease 		0.020 Biomarker group BEFREE However, some genetic diseases, in particular Aicardi-Goutières syndrome, Band-like calcification, and RNASET2-related disease, may mimic congenital infection; therefore, a full consideration of the radiological and clinical features is necessary before concluding that congenital infection is the cause. 24372060 2014