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Gene · 1287

Papers2,056

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
Identification of end-stage renal disease-associated loci in X chromosome: an X chromosome-wide association study.MedScience202642189395PubTator, text miningPubMed
Identification and pathogenicity analysis of a novel intronic COL4A5 variant in a Chinese family.Front Med (Lausanne)202642180677PubTator, 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
Kidney transplantation in Alport syndrome: A genotype-guided case series and literature review.Turk J Surg202642076904PubTator, text miningPubMed
Unusual Glomerular Abnormalities in a Patient With Combined COL4A5-NPHS1 Variants.Kidney Med202641971232PubTator, text miningPubMed
Umbilical cord-derived mesenchymal stem cells restore renal homeostasis in Alport Syndrome: Mechanistic insights and clinical translation.J Adv Res202641951047PubTator, text miningPubMed
Clinical Insights Into the COL4A3 p.Gly407Arg Variant in Alport Syndrome.Kidney360202641931366PubTator, text miningPubMed
Epidemiological characteristics and treatment patterns of Alport syndrome in Korea.Kidney Res Clin Pract202641923552PubTator, 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
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
Familial WT1-associated nephropathy - 46, XY Frasier syndrome and 46, XX steroid-resistant nephrotic syndrome in female siblings: A case report and review of literature.World J Nephrol202641884246PubTator, text miningPubMed
Reduced podocyte stiffness is a feature of proteinuric kidney disease.Kidney Int202641881106PubTator, text miningPubMed
m5C RNA methylation is dysregulated by oncogenic herpesviruses via c-Myc signaling to counteract host antiviral factors.Nucleic Acids Res202641873763PubTator, 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
Systematic reassessment of reported variants in individuals with suspicion of Alport spectrum disorder reveals a high rate of ambiguous results.Eur J Hum Genet202641851263PubTator, text miningPubMed
The Importance of Molecular Testing in the Diagnosis of Genetic Syndromes with Chronic Kidney Disease: Genotype-Phenotype Correlations.Int J Mol Sci202641828581PubTator, text miningPubMed
DPYD genotyping in patients receiving capecitabine: an exploratory analysis from the D-TORCH study.Front Pharmacol202641800094PubTator, text miningPubMed
Heterozygous X-linked Alport syndrome in a pregnant woman: A case report.SAGE Open Med Case Rep202641799611PubTator, 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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