RNR1, s-rRNA, 4549

N. diseases: 75; N. variants: 2
Disease: Prelingual Deafness ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0011052
Disease: Prelingual Deafness
Prelingual Deafness 		0.300 Biomarker disease CTD_human Functional characterization of the mitochondrial 12S rRNA C1494T mutation associated with aminoglycoside-induced and non-syndromic hearing loss. 15722487 2005
CUI: C0011052
Disease: Prelingual Deafness
Prelingual Deafness 		0.300 Biomarker disease CTD_human Aminoglycoside-induced hearing loss in a patient with the 961 mutation in mitochondrial DNA. 12037390 2002
CUI: C0011052
Disease: Prelingual Deafness
Prelingual Deafness 		0.300 Biomarker disease CTD_human Atypical muscle pathology and a survey of cis-mutations in deaf patients harboring a 1555 A-to-G point mutation in the mitochondrial ribosomal RNA gene. 12031626 2002
CUI: C0011052
Disease: Prelingual Deafness
Prelingual Deafness 		0.300 Biomarker disease CTD_human Familial streptomycin ototoxicity in a South African family: a mitochondrial disorder. 9391883 1997