Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal pro
miRNAmiRNA information provided by mirtarbase database.
Gene ontology (GO)Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
Evidence Score:★☆☆☆☆ Gene-disease association found in Text Mining only★★☆☆☆ Found in Text Mining and Unknown/Other Associations★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations
ClinVar entries with uncertain/conflicting evidence, and associations from other databases
(OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name
Clinical Significance
Source
Reference
Evidence Score
Exstrophy-epispadias complex
Uncertain significance
ClinVar
—
★★★★★
★★☆☆☆ Found in Text Mining + Unknown/Other Associations
High myopia
Uncertain significance
ClinVar
—
★★★★★
★★☆☆☆ Found in Text Mining + Unknown/Other Associations
["Ribosome","Coronavirus disease - COVID-19","Major pathway of rRNA processing in the nucleolus and cytosol","L13a-mediated translational silencing of Ceruloplasmin expression","Formation of a pool of free 40S subunits","GTP hydrolysis and joining of the 60S ribosomal subunit","Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)","SRP-dependent cotranslational protein targeting to membrane","Viral mRNA Translation","Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC)"]
["Ribosome","Coronavirus disease - COVID-19","Major pathway of rRNA processing in the nucleolus and cytosol","L13a-mediated translational silencing of Ceruloplasmin expression","Formation of a pool of free 40S subunits","GTP hydrolysis and joining of the 60S ribosomal subunit","Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)","SRP-dependent cotranslational protein targeting to membrane","Viral mRNA Translation","Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC)"]
["Ribosome","Coronavirus disease - COVID-19","Major pathway of rRNA processing in the nucleolus and cytosol","L13a-mediated translational silencing of Ceruloplasmin expression","Formation of a pool of free 40S subunits","GTP hydrolysis and joining of the 60S ribosomal subunit","Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)","SRP-dependent cotranslational protein targeting to membrane","Viral mRNA Translation","Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC)"]
["Ribosome","Coronavirus disease - COVID-19","Major pathway of rRNA processing in the nucleolus and cytosol","L13a-mediated translational silencing of Ceruloplasmin expression","Formation of a pool of free 40S subunits","GTP hydrolysis and joining of the 60S ribosomal subunit","Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)","SRP-dependent cotranslational protein targeting to membrane","Viral mRNA Translation","Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC)"]
["Ribosome","Coronavirus disease - COVID-19","Major pathway of rRNA processing in the nucleolus and cytosol","L13a-mediated translational silencing of Ceruloplasmin expression","Formation of a pool of free 40S subunits","GTP hydrolysis and joining of the 60S ribosomal subunit","Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)","SRP-dependent cotranslational protein targeting to membrane","Viral mRNA Translation","Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC)"]
0
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Diseases Linked via Similar GenesDiseases curated for genes most similar to RPL4 (see Related Genes above), that are NOT already directly curated for RPL4 itself -- a lead worth checking, not a confirmed association.