Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026846
Disease: Muscular Atrophy
Muscular Atrophy 		0.200 Biomarker phenotype RGD Effect of denervation-induced muscle disuse on mitochondrial protein import. 20943961 2011
CUI: C0677607
Disease: Hashimoto Disease
Hashimoto Disease 		0.100 GeneticVariation disease GWASCAT Genome-wide association analysis suggests novel loci underlying thyroid antibodies in Hashimoto's thyroiditis. 30926877 2019
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.100 GeneticVariation phenotype GWASCAT Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis. 28017375 2017
CUI: C0518015
Disease: Hemoglobin measurement
Hemoglobin measurement 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association study of hematological and biochemical traits in a Japanese population. 20139978 2010
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association study of hematological and biochemical traits in a Japanese population. 20139978 2010
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association study of hematological and biochemical traits in a Japanese population. 20139978 2010
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		0.010 AlteredExpression disease BEFREE The level of soluble matrix mitochondrial proteins imported through the TIM23 complex is lower in mHTT-expressing cell lines and brain tissues of HD patients compared with controls. 31346086 2019
CUI: C0035078
Disease: Kidney Failure
Kidney Failure 		0.010 Biomarker disease BEFREE Development of renal failure in PargParp-1 null and Timm23 hypomorphic mice. 31326434 2019
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		0.010 GeneticVariation disease BEFREE Abbreviations: 3-MA: 3-methylademine; ACTB/β-actin: actin, beta; ATG: autophagy related; ATG16L1: autophagy related 16-like 1 (S. cerevisiae); BECN1: beclin 1, autophagy related; CNR2: cannabinoid receptor 2 (macrophage); CNS: central nervous system; CQ: chloroquine; EAE: experimental autoimmune encephalomyelitis; FOXO3: forkhead box O3; GAPDH: glyceraldehyde-3-phosphate dehydrogenase; H&E: hematoxylin and eosin; ITGAM: integrin alpha M; LPS: lipoplysaccharide; MAP1LC3/LC3: microtubule-associated protein 1 light chain 3; miRNAs: microRNAs; MS: multiple sclerosis; PPARG: peroxisome proliferator activated receptor gamma; PTPRC: protein tyrosine phosphatase, receptor type, C; RA: rheumatoid arthritis; SQSTM1: sequestosome 1; TB: tuberculosis; TIMM23: translocase of inner mitochondrial membrane 23; TLR: toll-like receptor. 30208760 2019
CUI: C0155626
Disease: Acute myocardial infarction
Acute myocardial infarction 		0.010 AlteredExpression disease BEFREE We assessed the effects of eAE-HRS on myocardial injury and oxidative damage in the MI model of rats and detected the effects of eAE-HRS on the expressions of cardiac OGG1 and Tom40, Tom20, and Tim23. 30033489 2019
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.010 Biomarker disease BEFREE Complex I inhibition, a characteristic pathological hallmark in PD, impaired mitochondrial protein import, which was associated with a downregulation of two key components of the system: translocase of the outer membrane 20 (TOM20) and translocase of the inner membrane 23 (TIM23), both in vitro and in vivo. 30405116 2018
CUI: C0342779
Disease: ATP synthase deficiency
ATP synthase deficiency 		0.010 Biomarker disease BEFREE Here we demonstrate that modulating the sorting of nuclear-encoded proteins into mitochondria, mediated by the TIM23 complex, proves therapeutic in both yeast and patient-derived cells exhibiting ATP synthase deficiency. 25519239 2014
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		0.010 Biomarker disease BEFREE We propose that the mutations resulting in decreased stability of functional Magmas:DnaJC19 subcomplex at human TIM23 channel leads to impaired protein import and cellular respiration in DCM patients. 20053669 2010
CUI: C0796074
Disease: MOHR-TRANEBJAERG SYNDROME
MOHR-TRANEBJAERG SYNDROME 		0.010 AlteredExpression disease BEFREE Deafness/dystonia syndrome thus may be caused by decreased levels of Tim23 in the mitochondrial inner membrane in affected tissues. 11875042 2002