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Gene · 3425

Papers1,870

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
Urine proteome uncovers common mechanisms between mucopolysaccharidosis types I and II.Clin Biochem202540939753PubTator, text miningPubMed
Feasibility and clinical utility of expanded genomic newborn screening in the Early Check program.Nat Med202540913169PubTator, text miningPubMed
Systematic Comparison of Temperature Effects on Antibody Performance via Automated Image Analysis: A Key for Primary Ciliary Dyskinesia Diagnostic.Cells202540862715PubTator, text miningPubMed
Hand stiffness not only a rheumatological sign: A case of early onset mucolipidosis III-gamma with literature review.Mol Genet Metab Rep202540838094PubTator, text miningPubMed
Efficacy and safety of a biosimilar laronidase versus the reference laronidase in patients with mucopolysaccharidosis type I.Sci Rep202540830667PubTator, text miningPubMed
Biallelic loss-of-function variants of DNAH7 cause male infertility associated with asthenozoospermia in humans.Hum Genet202540810911PubTator, text miningPubMed
Clinical applications of and molecular insights from RNA sequencing in a rare disease cohort.Genome Med202540597352PubTator, text miningPubMed
Prognostic Modeling of Deleterious IDUA Mutations L238Q and P385R in Hurler Syndrome Through Molecular Dynamics Simulations.Pharmaceuticals (Basel)202540573317PubTator, text miningPubMed
Analysis of the Effect of Demographic Variables on Lysosomal Enzyme Activities in the Missouri Newborn Screening Program.Int J Neonatal Screen202540559185PubTator, text miningPubMed
Characterization of Dried Blood Spot Quality Control Materials for Lysosomal Enzyme Activity Assays Using Digital Microfluidic Fluorometry to Detect Lysosomal Storage Disorders in Newborns.Int J Neonatal Screen202540559181PubTator, text miningPubMed
Hurricane Ida's blackout-heatwave compound risk in a changing climate.Nat Commun202540374628PubTator, text miningPubMed
Unraveling mutagenic processes influencing the tumor mutational patterns of individuals with constitutional mismatch repair deficiency.Nat Commun202540368937PubTator, text miningPubMed
Synergistic Enhancement of Compromised Skin Radiance: A Clinical Investigation of Prinsepia utilis Royle Polysaccharides and Nonapeptide Co-Application.J Cosmet Dermatol202540367144PubTator, text miningPubMed
Combining clinically benign IDUA variants in cis reduces enzymatic activity of the resulting enzyme within the pathogenic range.Mol Genet Metab202540359731PubTator, text miningPubMed
N-glycan-modified α-L-iduronidase produced by transgenic silkworms ameliorates clinical signs in a Japanese macaque with mucopolysaccharidosis I.Commun Med (Lond)202540251406PubTator, text miningPubMed
Oral and Poster Abstracts of the 13th ISNS European Regional Meeting.Int J Neonatal Screen202540136636PubTator, text miningPubMed
Antibodies to recombinant human alpha-L-iduronidase prevent disease correction in cortical bone in MPS I mice.Mol Ther Methods Clin Dev202540123743PubTator, text miningPubMed
A girl with intragenic variants in MARS2 and a chondrodysplasia phenotype.Mol Genet Metab Rep202539995633PubTator, text miningPubMed
Mucopolysaccharidoses types I and IIIA: Diagnosis and identification of novel polymorphisms associated with common mutations in Moroccan patients.Mol Genet Metab Rep202539897474PubTator, text miningPubMed
Olfactory Dysfunction in Primary Ciliary Dyskinesia.OTO Open202539896853PubTator, 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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