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: 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 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 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
CUI: C0162672
Disease: MERRF Syndrome
MERRF Syndrome 		0.300 GeneticVariation disease ORPHANET
CUI: C0751068
Disease: Deafness, Acquired
Deafness, Acquired 		0.300 Biomarker disease CTD_human Aminoglycoside-induced hearing loss in a patient with the 961 mutation in mitochondrial DNA. 12037390 2002
CUI: C0751068
Disease: Deafness, Acquired
Deafness, Acquired 		0.300 Biomarker disease CTD_human Familial streptomycin ototoxicity in a South African family: a mitochondrial disorder. 9391883 1997
CUI: C0751068
Disease: Deafness, Acquired
Deafness, Acquired 		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: 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: 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: C4082305
Disease: Deaf Mutism
Deaf Mutism 		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: C4082305
Disease: Deaf Mutism
Deaf Mutism 		0.300 Biomarker disease CTD_human Aminoglycoside-induced hearing loss in a patient with the 961 mutation in mitochondrial DNA. 12037390 2002
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: C4082305
Disease: Deaf Mutism
Deaf Mutism 		0.300 Biomarker disease CTD_human Familial streptomycin ototoxicity in a South African family: a mitochondrial disorder. 9391883 1997
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.130 GeneticVariation disease BEFREE Generation of an induced pluripotent stem cell line from a 39-year-old female patient with severe-to-profound non-syndromic sensorineural hearing loss and a A1555G mutation in the mitochondrial MTRNR1 gene. 29174977 2017
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.130 Biomarker disease HPO
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.130 GeneticVariation disease BEFREE Mitochondrial sensorineural hearing loss (SNHL) may be nonsyndromic (occurring in isolation), associated with the A1555G mutation in the MTRNR1 gene. 12806294 2003
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.130 Biomarker disease BEFREE Mutations in mitochondrial 12S rRNA (MT-RNR1) are the important causes of sensorineural hearing loss. 27397648 2016
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.100 Biomarker disease HPO
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.100 Biomarker disease HPO
CUI: C0745730
Disease: Multiple lipomata
Multiple lipomata 		0.100 Biomarker disease HPO
CUI: C1838854
Disease: DEAFNESS, AMINOGLYCOSIDE-INDUCED
DEAFNESS, AMINOGLYCOSIDE-INDUCED 		0.100 CausalMutation disease CLINVAR
CUI: C4021759
Disease: Generalized myoclonic seizures
Generalized myoclonic seizures 		0.100 Biomarker disease HPO
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.050 GeneticVariation disease BEFREE In this study, we investigated the genetic etiology of nonsyndromic deafness in four consanguineous and two multiplex Uyghur families in which mutations in common deafness genes GJB2, SLC26A4 and MT-RNR1 were excluded. 26011067 2015