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 Biomarker phenotype CTD_human
CUI: C0026848
Disease: Myopathy
Myopathy 		0.400 Biomarker group HPO
CUI: C0162672
Disease: MERRF Syndrome
MERRF Syndrome 		0.300 GeneticVariation disease ORPHANET
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.130 Biomarker disease HPO
CUI: C0004134
Disease: Ataxia
Ataxia 		0.100 Biomarker phenotype HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 Biomarker group 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: C0349588
Disease: Short stature
Short stature 		0.100 Biomarker phenotype HPO
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal 		0.100 Biomarker phenotype 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: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C3275417
Disease: Ragged-red muscle fibers
Ragged-red muscle fibers 		0.100 Biomarker phenotype HPO
CUI: C4021759
Disease: Generalized myoclonic seizures
Generalized myoclonic seizures 		0.100 Biomarker disease HPO
CUI: C0085166
Disease: Bacterial Vaginosis
Bacterial Vaginosis 		0.010 Biomarker disease BEFREE <i>Results.</i> In spontaneous abortion women, 16 S rRNA gene sequences showed significant increases in <i>Atopobium vaginae</i>, <i>Megasphaera</i> spp., <i>Gardnerella vaginalis</i>, <i>Leptotrichia amnionii</i>, and <i>Sneathia sanguinegens</i> compared to women in nonabortion group. 29479540 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 GeneticVariation group BEFREE Tumor also presented substantially more variants in the following regions: MT-RNR1, MT-ND5, MT-ND4, MT-ND2, MT-DLOOP1 and MT-CO1. 31673122 2019
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism 		0.010 Biomarker disease BEFREE Mitochondrial open reading frame of the 12S rRNA-c (MOTS-c) is a mitochondrial-derived peptide that attenuates weight gain and hyperinsulinemia when administered to high fat-fed mice. 29593067 2018
CUI: C0342649
Disease: Vascular calcification
Vascular calcification 		0.010 Biomarker phenotype BEFREE Mitochondrial-Derived Peptide MOTS-c Attenuates Vascular Calcification and Secondary Myocardial Remodeling via Adenosine Monophosphate-Activated Protein Kinase Signaling Pathway. 31694019 2020
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 Biomarker disease BEFREE A novel bioactive peptide, mitochondrial-derived peptide (MOTS-c), has recently attracted attention as a potential prevention or therapeutic option for obesity and type 2 diabetes mellitus (T2DM). 29691953 2018
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