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Gene · 2548

Papers2,709

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
Implementing a Tiered Genetic Testing Strategy for Muscular Dystrophies in Morocco: From Targeted Assays to Exome Sequencing.Mol Genet Genomic Med202641742649PubTator, text miningPubMed
Generation and characterization of a novel Gaa compound heterozygous mouse model recapitulating human Pompe disease.Orphanet J Rare Dis202641742217PubTator, text miningPubMed
Lactylation profiling reveals novel biomarkers and immune interactions in pancreatic cancer.Transl Oncol202641734473PubTator, text miningPubMed
Glycogen storage disease type IX: Long-term follow-up of 52 patients from three European countries.Mol Genet Metab Rep202641732189PubTator, text miningPubMed
Short-Term Intensive Avalglucosidase Alfa Regimen in Late-Diagnosed Infantile Pompe Disease: A Case Report.Reports (MDPI)202641718282PubTator, text miningPubMed
Cell modeling and rescue of a novel noncoding genetic cause of glycogen storage disease IX.Genet Med Open202641716687PubTator, text miningPubMed
Clinicopathologic Correlates: Progressive Downbeat Nystagmus in Spinocerebellar Ataxia Type 27B.J Neuroophthalmol202641700956PubTator, text miningPubMed
A roadmap for a patient-centred approach to Pompe disease management.J Neurol202641689635PubTator, text miningPubMed
Improving access to rare disease diagnostics in Africa: insights from a multinational pilot study.Orphanet J Rare Dis202641645220PubTator, text miningPubMed
Integrated co-expression analysis of host-parasite transcriptomes reveals mechanisms of host modulation in an ant-cestode system.BMC Genomics202641620683PubTator, text miningPubMed
Targeted Carrier Screening for Thalassemia, Hereditary Deafness, and Spinal Muscular Atrophy: A Feasible Approach for Preventing Birth Defects in China's Community Healthcare System.Mol Genet Genomic Med202641566141PubTator, text miningPubMed
GMPPB-CDG Results in Lysosomal Dysfunction and Acid Alpha-Glucosidase Deficiency.J Inherit Metab Dis202641554119PubTator, text miningPubMed
Early initiation of enzyme replacement therapy as facilitated by newborn screening improves health outcomes among patients with infantile-onset Pompe disease.Genet Med Open202641536902PubTator, text miningPubMed
Porcine serum maltase-glucoamylase: structure, kinetics, and inhibition.J Enzyme Inhib Med Chem202641534875PubTator, text miningPubMed
Glycophagy: molecular mechanisms, regulatory signals, and disease associations.Autophagy Rep202641522193PubTator, text miningPubMed
Rapid Regression of Myocardial Hypertrophy with First-Line Avalglucosidase Alfa in Infantile-Onset Pompe Disease: A Case Report.Pediatr Cardiol202641511518PubTator, text miningPubMed
Clinical, Genetic, and Imaging Characteristics of SCA27B: Insights from a Large Dutch Cohort.Mov Disord202641504274PubTator, text miningPubMed
Integrative Human Genomic and Pharmacological Analyses Identify CACNB4 as a Druggable Target for Periodontitis.J Periodontal Res202641498379PubTator, text miningPubMed
Recommendations for the diagnosis, treatment, and follow-up of late-onset Pompe disease.Neurologia (Engl Ed)202641453611PubTator, text miningPubMed
Evaluation of Experienced Clinical Events in Pompe Disease Based on Real-life Data.Neuropediatrics202641453391PubTator, 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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