RPL3, ribosomal protein L3, 6122

N. diseases: 26; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007097
Disease: Carcinoma
Carcinoma 		0.300 Biomarker group CTD_human Global gene expression profiling of chemically induced rat mammary gland carcinomas and adenomas. 16316942 2005
CUI: C0024667
Disease: Animal Mammary Neoplasms
Animal Mammary Neoplasms 		0.300 Biomarker phenotype CTD_human Global gene expression profiling of chemically induced rat mammary gland carcinomas and adenomas. 16316942 2005
CUI: C0024668
Disease: Mammary Neoplasms, Experimental
Mammary Neoplasms, Experimental 		0.300 Biomarker phenotype CTD_human Global gene expression profiling of chemically induced rat mammary gland carcinomas and adenomas. 16316942 2005
CUI: C0205696
Disease: Anaplastic carcinoma
Anaplastic carcinoma 		0.300 Biomarker disease CTD_human Global gene expression profiling of chemically induced rat mammary gland carcinomas and adenomas. 16316942 2005
CUI: C0205697
Disease: Carcinoma, Spindle-Cell
Carcinoma, Spindle-Cell 		0.300 Biomarker disease CTD_human Global gene expression profiling of chemically induced rat mammary gland carcinomas and adenomas. 16316942 2005
CUI: C0205698
Disease: Undifferentiated carcinoma
Undifferentiated carcinoma 		0.300 Biomarker disease CTD_human Global gene expression profiling of chemically induced rat mammary gland carcinomas and adenomas. 16316942 2005
CUI: C0205699
Disease: Carcinomatosis
Carcinomatosis 		0.300 Biomarker phenotype CTD_human Global gene expression profiling of chemically induced rat mammary gland carcinomas and adenomas. 16316942 2005
CUI: C1257925
Disease: Mammary Carcinoma, Animal
Mammary Carcinoma, Animal 		0.300 Biomarker disease CTD_human Global gene expression profiling of chemically induced rat mammary gland carcinomas and adenomas. 16316942 2005
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.100 GeneticVariation disease GWASDB Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis. 21399635 2011
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy 		0.020 Biomarker disease BEFREE Recently, the ASC-1 complex has been identified as a mechanistic link between ALS and spinal muscular atrophy (SMA), and three mutations of the ASC-1 gene TRIP4 have been associated with SMA or congenital myopathy. 31794073 2020
CUI: C0026848
Disease: Myopathy
Myopathy 		0.020 Biomarker group BEFREE Our results expand the phenotypical and molecular spectrum of TRIP4-associated disease to include mild adult forms with or without cardiomyopathy, associate ASC-1 depletion with primary pure muscle involvement and establish TRIP4 as a causative gene for several congenital muscle diseases including nemaline, core, centronuclear or cytoplasmic-body myopathies. 31794073 2020
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy 		0.020 Biomarker disease BEFREE We conclude that ALS and SMA are more intimately tied to one another than previously thought, being linked via the ASC-1 complex. 30398641 2018
CUI: C0026848
Disease: Myopathy
Myopathy 		0.020 Biomarker group BEFREE The transcription coactivator ASC-1 is a regulator of skeletal myogenesis, and its deficiency causes a novel form of congenital muscle disease. 27008887 2016
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder) 		0.010 GeneticVariation group BEFREE Recently, the ASC-1 complex has been identified as a mechanistic link between ALS and spinal muscular atrophy (SMA), and three mutations of the ASC-1 gene TRIP4 have been associated with SMA or congenital myopathy. 31794073 2020
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.010 Biomarker disease BEFREE Brightfield microscopy-assisted approaches were used to estimate the effect of ASC (1-14 mM) on the morphology and invasiveness of human GBM, rat PC and normal mouse 3T3 cells, whereas cytostatic/pro-apoptotic activity of ASC was estimated with flow cytometry. 31306660 2019
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.010 GeneticVariation group BEFREE The new neuromuscular disease related with defects in the ASC-1 complex: report of a second case confirms ASCC1 involvement. 28218388 2017
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 Biomarker group BEFREE These data reveal a novel mechanism to accomplish p53-independent apoptosis and suggest a potential therapeutic approach aimed at upregulating rpL3 for treating cancers lacking p53. 27385096 2016
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.010 AlteredExpression disease BEFREE In this study, we analyzed L3 expression profile in colon cancer tissues and demonstrated that L3 mRNA amount decreased with malignant progression and the intensity of its expression was inversely related to tumor grade and Bcl-2/Bax ratio. 27835895 2016
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 Biomarker group BEFREE These results led us to propose a novel combined therapy with the use of 5-FU plus L3 in order to establish individualized therapy by examining L3 profiles in tumors to yield a better clinical outcomes. 27835895 2016
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.010 Biomarker disease BEFREE Our results suggest that combination of rpL3 and 5-FU is a promising strategy for chemotherapy of lung cancers lacking functional p53 that are resistant to 5-FU. 27924828 2016
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		0.010 AlteredExpression disease BEFREE In this study, we analyzed L3 expression profile in colon cancer tissues and demonstrated that L3 mRNA amount decreased with malignant progression and the intensity of its expression was inversely related to tumor grade and Bcl-2/Bax ratio. 27835895 2016
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 Biomarker phenotype BEFREE We finally demonstrate that rpL3 potentiates 5-FU efficacy inhibiting cell migration and invasion. 27924828 2016
CUI: C1519670
Disease: Tumor Angiogenesis
Tumor Angiogenesis 		0.010 Biomarker phenotype BEFREE Four of the ten late-type genes, the ribosome-related factors EIF4B, RPL5, RPL3, and the tumor angiogenesis modifier EPN3 were significantly associated with MFS in the late period also in a meta-analysis of tamoxifen-treated breast cancer cohorts. 27926932 2016
CUI: C0339901
Disease: Acute respiratory infections
Acute respiratory infections 		0.010 Biomarker group BEFREE In summary, this study suggests RPL6, RPL3, and RPL15 as hub genes and the ribosome pathway to be significantly associated with viral ARI in infants, which might also be used as potential markers for the viral etiology. 26782481 2015
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		0.010 GeneticVariation disease BEFREE In this comparative case-control study, we included 60 patients with RPL (≥3 consecutive pregnancy losses at <20 weeks of gestation) and PCOS (Group 1), 60 patients with PCOS and without RPL (Group 2), 60 patients with RPL and without PCOS (Group 3), and 60 healthy individuals (Group 4). 23683262 2013