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Gene · 1285

Papers2,040

Newest first. Swiss-Prot's references are curated; PubTator's text mining finds papers that name the gene, not always ones about it.

TitleJournalYearPMIDFound bySource
Whole genome sequencing for CKD of unexplained cause in Hong Kong.Nephrol Dial Transplant202642329778PubTator, text miningPubMed
Genetic heterogeneity correlated with phenotypic variability in 6 Chinese families with Alport syndrome.Front Genet202642326388PubTator, text miningPubMed
Adhesion G protein-coupled receptor F5 mediates shear stress mechanotransduction in glomerular endothelial cells.J Biochem202642233720PubTator, text miningPubMed
Functional validation of spliceogenic COL4A3 and COL4A4 variants by minigene assays refines molecular diagnosis of Alport syndrome.Hum Genomics202642204651PubTator, text miningPubMed
Autosomal Dominant Alport Syndrome.J Am Soc Nephrol202642172079PubTator, text miningPubMed
Prevalence Estimates of Predicted Pathogenic COL4A3-COL4A5 Variants in the Chinese Population and Its Implications for Clinical Practice.Am J Kidney Dis202642142611PubTator, text miningPubMed
Monogenic kidney disease and monogenic diabetes are present in renal clinic patients with non-genetic diagnoses.Sci Rep202642141127PubTator, text miningPubMed
Clinical and Molecular characteristics of kidney and urinary tract congenital anomalies in a cohort of Egyptian patients using whole-exome sequencing.Mol Biol Rep202642132966PubTator, text miningPubMed
Kidney transplantation in Alport syndrome: A genotype-guided case series and literature review.Turk J Surg202642076904PubTator, text miningPubMed
A Novel Homozygous COL4A3 c.1873G>A (p.Gly625Ser) Variant Presenting With Autosomal Recessive Alport Syndrome: Clinical, Genetic, and Segregation Evidence.Kidney Int Rep202642058114PubTator, text miningPubMed
Phenotype of autosomal dominant Alport syndrome with a likely pathogenic heterozygous variant in the COL4A3 gene (Gly366Arg) and incidental teratozoospermia: A case report.An Sist Sanit Navar202642007680PubTator, text miningPubMed
Sodium-Glucose Cotransporter-2-inhibitors in Adult Patients With Alport Syndrome.Kidney Int Rep202642006198PubTator, text miningPubMed
Clinical Insights Into the COL4A3 p.Gly407Arg Variant in Alport Syndrome.Kidney360202641931366PubTator, text miningPubMed
Prevalence and Genetic Spectrum of Inherited Kidney Diseases: A Chinese Cohort Study.Kidney360202641920701PubTator, text miningPubMed
Clinical value of luciferase-based bioluminescence assay in diagnosis of Alport syndrome.Front Pediatr202641908531PubTator, text miningPubMed
The effects of elevated phosphate on the kidney - damaging the gatekeeper.Pflugers Arch202641906060PubTator, text miningPubMed
Phenotype-Driven Next-Generation Sequencing and Structure-Based In Silico Analysis Reveal Disease-Specific Diagnostic Yield and Genotype-Phenotype Correlations in Inherited Kidney Diseases.Life (Basel)202641901018PubTator, text miningPubMed
Distinct Genetic Profiles Associated With Subretinal Drusenoid Deposits and Cardiovascular Risk in Age-Related Macular Degeneration.Transl Vis Sci Technol202641879420PubTator, text miningPubMed
Sequential sequencing reveals the architecture and complexity of genomic variants in patients with Alport syndrome.Nat Commun202641872207PubTator, text miningPubMed
Extracellular vesicle miR-93-5p cargo regulates glomerular endothelial cell damage in Alport syndrome.JCI Insight202641869725PubTator, text miningPubMed

gene-search-2026-11-11-0.2.0

Sources 12

  • ClinicalTrials.gov's posted results, through CTTI's AACTFreely available. Acknowledgement requested
  • ChEMBL, through Open TargetsCC BY-SA 3.0
  • ClinicalTrials.govNo license stated
  • EMBL-EBI's patent proteinsNo added restrictions. Attribution expected
  • GenBank's patent filesNo restrictions from NCBI. Submitters may hold rights
  • HGNCCC0
  • NCBI GenePublic domain (US government)
  • NIH's project files and grant-paper linksPublic domain
  • Open TargetsCC0 1.0
  • PubMedNLM's terms
  • PubTator 3Public domain
  • UniProtCC BY 4.0
Each source's terms
  • ClinicalTrials.gov's posted results, through CTTI's AACTClinicalTrials.gov data via Aggregate Analysis of ClinicalTrials.gov (AACT), CTTI. CTTI makes its materials freely available and requests acknowledgement. https://aact.ctti-clinicaltrials.org/documentation/299
  • ChEMBL, through Open TargetsCC BY-SA 3.0, for the parts from ChEMBL. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
  • ClinicalTrials.govnone stated
  • EMBL-EBI's patent proteinsEMBL-EBI's patent protein files from the EPO, JPO, KIPO and USPTO. EMBL-EBI: "EMBL-EBI itself places no additional restrictions on the use or redistribution of the data available via its Data Resources and Tools other than those provided by the original data owners" and "EMBL-EBI expects attribution (e.g. in publications, services or products) for the use of any of its Data Resources and Tools." Read on 11 Nov 2026 at https://www.ebi.ac.uk/about/terms-of-use
  • GenBank's patent filesGenBank's patent files. NCBI: "NCBI places no restrictions on the use or distribution of the GenBank data. However, some submitters may claim patent, copyright, or other intellectual property rights in all or a portion of the data they have submitted." Read on 11 Nov 2026 at https://www.ncbi.nlm.nih.gov/genbank/about/
  • HGNCCC0: https://www.genenames.org/about/license/
  • NCBI GeneNone named for the file. NCBI says information created by or for the US government on its site is in the public domain, and asks that NLM be acknowledged: https://www.ncbi.nlm.nih.gov/home/about/policies/
  • NIH's project files and grant-paper linksPublic domain (NIH RePORTER)
  • Open TargetsCC0 1.0. Open Targets asks that users cite its latest paper: Buniello et al. 2025, Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery, Nucleic Acids Research 53(D1):D1467, PMID 39657122. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
  • PubMedNLM's terms
  • PubTator 3Public domain
  • UniProtCC BY 4.0. UniProt's licence file: "All databases and documents in the UniProt FTP directory may be copied and redistributed freely, without advance permission, provided that this copyright statement is reproduced with each copy." UniProt asks that users cite its latest paper: The UniProt Consortium, UniProt: the Universal Protein Knowledgebase in 2025, Nucleic Acids Research 53:D609-D617, https://doi.org/10.1093/nar/gkae1010. Read on 9 Nov 2026 at https://www.uniprot.org/help/license

ClinicalTrials.gov's data carry an international copyright outside the United States: https://clinicaltrials.gov/about-site/terms-conditions.

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