RNR1, s-rRNA, 4549

N. diseases: 75; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1857332
Disease: Deafness, Sensorineural, Autosomal-Mitochondrial Type
Deafness, Sensorineural, Autosomal-Mitochondrial Type 		0.500 GermlineCausalMutation phenotype ORPHANET [Gene therapy for human hearing loss: challenges and promises]. 24148127 2013
CUI: C1857332
Disease: Deafness, Sensorineural, Autosomal-Mitochondrial Type
Deafness, Sensorineural, Autosomal-Mitochondrial Type 		0.500 Biomarker phenotype CTD_human
CUI: C0026848
Disease: Myopathy
Myopathy 		0.400 Biomarker group 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: C0026848
Disease: Myopathy
Myopathy 		0.400 Biomarker group HPO
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: C0011053
Disease: Deafness
Deafness 		0.300 Biomarker phenotype CTD_human Functional characterization of the mitochondrial 12S rRNA C1494T mutation associated with aminoglycoside-induced and non-syndromic hearing loss. 15722487 2005
CUI: C0086395
Disease: Hearing Loss, Extreme
Hearing Loss, Extreme 		0.300 Biomarker phenotype CTD_human Functional characterization of the mitochondrial 12S rRNA C1494T mutation associated with aminoglycoside-induced and non-syndromic hearing loss. 15722487 2005
CUI: C0581883
Disease: Complete Hearing Loss
Complete Hearing Loss 		0.300 Biomarker phenotype CTD_human Functional characterization of the mitochondrial 12S rRNA C1494T mutation associated with aminoglycoside-induced and non-syndromic hearing loss. 15722487 2005
CUI: C0751068
Disease: Deafness, Acquired
Deafness, Acquired 		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: C3665473
Disease: Bilateral Deafness
Bilateral Deafness 		0.300 Biomarker phenotype CTD_human Functional characterization of the mitochondrial 12S rRNA C1494T mutation associated with aminoglycoside-induced and non-syndromic hearing loss. 15722487 2005
CUI: C4082305
Disease: Deaf Mutism
Deaf Mutism 		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: C0040264
Disease: Tinnitus
Tinnitus 		0.300 Biomarker phenotype CTD_human A novel mitochondrial mutation, 1556C --> T, in a Japanese patient with streptomycin-induced tinnitus. 15141753 2004
CUI: C0155533
Disease: Tinnitus, Subjective
Tinnitus, Subjective 		0.300 Biomarker phenotype CTD_human A novel mitochondrial mutation, 1556C --> T, in a Japanese patient with streptomycin-induced tinnitus. 15141753 2004
CUI: C0155534
Disease: Tinnitus, Objective
Tinnitus, Objective 		0.300 Biomarker phenotype CTD_human A novel mitochondrial mutation, 1556C --> T, in a Japanese patient with streptomycin-induced tinnitus. 15141753 2004
CUI: C0395959
Disease: Tinnitus of Vascular Origin
Tinnitus of Vascular Origin 		0.300 Biomarker phenotype CTD_human A novel mitochondrial mutation, 1556C --> T, in a Japanese patient with streptomycin-induced tinnitus. 15141753 2004
CUI: C0521787
Disease: Tinnitus, Clicking
Tinnitus, Clicking 		0.300 Biomarker phenotype CTD_human A novel mitochondrial mutation, 1556C --> T, in a Japanese patient with streptomycin-induced tinnitus. 15141753 2004
CUI: C0521788
Disease: Tinnitus, Leudet
Tinnitus, Leudet 		0.300 Biomarker phenotype CTD_human A novel mitochondrial mutation, 1556C --> T, in a Japanese patient with streptomycin-induced tinnitus. 15141753 2004
CUI: C0751556
Disease: Tinnitus, Spontaneous Oto-Acoustic Emission
Tinnitus, Spontaneous Oto-Acoustic Emission 		0.300 Biomarker phenotype CTD_human A novel mitochondrial mutation, 1556C --> T, in a Japanese patient with streptomycin-induced tinnitus. 15141753 2004
CUI: C0751557
Disease: Tinnitus, Tensor Palatini Induced
Tinnitus, Tensor Palatini Induced 		0.300 Biomarker phenotype CTD_human A novel mitochondrial mutation, 1556C --> T, in a Japanese patient with streptomycin-induced tinnitus. 15141753 2004
CUI: C0751558
Disease: Tinnitus, Tensor Tympani Induced
Tinnitus, Tensor Tympani Induced 		0.300 Biomarker phenotype CTD_human A novel mitochondrial mutation, 1556C --> T, in a Japanese patient with streptomycin-induced tinnitus. 15141753 2004
CUI: C0751559
Disease: Pulsatile Tinnitus
Pulsatile Tinnitus 		0.300 Biomarker disease CTD_human A novel mitochondrial mutation, 1556C --> T, in a Japanese patient with streptomycin-induced tinnitus. 15141753 2004
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: C0011053
Disease: Deafness
Deafness 		0.300 Biomarker phenotype 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: C0011053
Disease: Deafness
Deafness 		0.300 Biomarker phenotype CTD_human Aminoglycoside-induced hearing loss in a patient with the 961 mutation in mitochondrial DNA. 12037390 2002