241 Matching Annotations
  1. Last 7 days
  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Matching heterogeneous cohorts by projected principal components reveals two novel Alzheimer's disease‐associated genes in the Hispanic population
    1
    1. Yukesh 30 Oct 2026
      Matching heterogeneous cohorts by projected principal components reveals two novel Alzheimer's disease‐associated genes in the Hispanic population

      PMID: 41755704

      Gene: GDAP2

      HGNC: 18010

      AdditionalInfo: No evidence found. Genome-wide association study of Alzheimer's disease in Hispanic participants. A rare variant (rs935208076) approximately 50 kb from GDAP2 reached genome-wide significance in one of two meta-analyses (All of Us participants matched by genetic principal components, age and sex; Table 2), and was not confirmed in other independent cohorts (Results 3.5). No SCAR27 cases or GDAP2 variants in ataxia patients reported. Authors propose GDAP2 as a novel Alzheimer's disease-associated gene.

      General Gene:GDAP2 HGNC:18010 NoEvidence
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    pmc.ncbi.nlm.nih.gov/articles/PMC12946819/
  3. Oct 2026
  4. www.sciencedirect.com www.sciencedirect.com
    Inherited traits affecting platelet function
    1
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    sciencedirect.com/science/article/pii/S0268960X07000719
  5. ashpublications.org ashpublications.org
    Recombinant factor VIIa enhances deposition of platelets with congenital or acquired αIIbβ3 deficiency to endothelial cell matrix and collagen under conditions of flow via tissue factor–independent thrombin generation
    1
    1. ClingenBaseline 27 Oct 2026
      Recombinant factor VIIa enhances deposition of platelets with congenital or acquired αIIbβ3 deficiency to endothelial cell matrix and collagen under conditions of flow via tissue factor–independent thrombin generation

      PMID: 12411291

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      NoEvidence: This article does not mention GT probands with variants in ITGA2B and/or ITGB3 therefore there is no evdience; however, there may be potenetial experimental assay information

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 NoEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    ashpublications.org/blood/article/101/5/1864/106606/Recombinant-factor-VIIa-enhances-deposition-of
  6. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    biochemj00164-0222.pdf
    1
    1. ClingenBaseline 27 Oct 2026
      Interactionofhumanplateletswithlamininandidentificationofthe67kDalamininreceptoronplatelets

      PMID: 1826081

      Gene: ITGA2B and ITGB3 (we are noting these gene names even though there is no evidence for GT in this article, because we are curating for these genes-- CThaxton advised it would be a good idea to always note down Genes and HGNC)

      HGNC: 6138 and 6156

      NoEvidence: This article does not mention Glanzmann thrombasthenia patients/probands with variants in ITGA2B and/or ITGB3; therefore, there is no evidence to report. The studies performed in this article were undertaken to characterize the interaction of platelets with laminin.

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 NoEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    ncbi.nlm.nih.gov/pmc/articles/PMC1150172/pdf/biochemj00164-0222.pdf
  7. www.tandfonline.com www.tandfonline.com
    08880019709030883
    1
    1. ClingenBaseline 27 Oct 2026
      FLOW CYTOMETRIC ANALYSIS OF PLATELET SURFACE GLYCOPROTEINS IN THE DIAGNOSIS OF BERNARD-SOULIER SYNDROME

      PMID: 9021812

      Gene: ITGA2B and ITGB3

      HGNC: 6138 and 6156

      NoEvidence: This article does not mention Glanzmann thrombasthenia patients/probands with variants in ITGA2B and/or ITGB3; therefore, there is no evidence to report

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 NoEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    tandfonline.com/doi/pdf/10.3109/08880019709030883
  8. reader.elsevier.com reader.elsevier.com
    PII: 0049-3848(91)90340-3
    1
    1. ClingenBaseline 27 Oct 2026
      VISUALIZATION OF PLATELET GLYCOPROTEINS Ib AND IIIa BY IMMUNOENZYMATIC STAIN USING AVIDIN-BIOTIN PEROXIDASE COMPLE

      PMID: 1788826

      Gene: ITGA2B and ITGB3

      HGNC: 6138 and 6156

      NoEvidence: This article does not mention Glanzmann thrombasthenia probands with variants in ITGA2B and/or ITGB3; therefore, there is no evidence

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 NoEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    reader.elsevier.com/reader/sd/pii/0049384891903403
  9. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    The GPIIb/IIIa (integrin αIIbβ3) odyssey: a technology-driven saga of a receptor with twists, turns, and even a bend
    1
    1. ClingenBaseline 27 Oct 2026
      The GPIIb/IIIa (integrin αIIbβ3) odyssey: a technology-driven saga of a receptor with twists, turns, and even a bend

      PMID: 18840725

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      NoEvidence: This article is a review discussing the integrin αIIbβ3, there is no mention of probands with variants in ITGA2B and/or ITGB3

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 NoEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    ncbi.nlm.nih.gov/pmc/articles/PMC2569161/
  10. stke.sciencemag.org stke.sciencemag.org
    Platelets contribute to amyloid-β aggregation in cerebral vessels through integrin αIIbβ3–induced outside-in signaling and clusterin release
    1
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    stke.sciencemag.org/content/9/429/ra52.full
  11. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    ACO2 clinicobiological dataset with extensive phenotype ontology annotation
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC8342444/
  12. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    An algorithm to predict phenotypic severity in mucopolysaccharidosis type I in the first month of life
    2
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    pmc.ncbi.nlm.nih.gov/articles/PMC3710214/
  13. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Comment on "report of 5 novel mutations of the α-L-iduronidase gene and comparison of Korean mutations in relation with those of Japan or China in patients with mucopolysaccharidosis I"
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC6172781/
  14. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    In utero adenine base editing corrects multi-organ pathology in a lethal lysosomal storage disease
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC8277817/
  15. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    IDUA mutational profile and genotype-phenotype relationships in UK patients with Mucopolysaccharidosis Type I
    1
    1. ClingenBaseline 26 Oct 2026
      To assess the potential utility of these genotype–phenotype relationships, the associations suggested were applied to test cohort derived from a previously published cohort of MPS I patients (Beesley et al., 2001). This study described the variants identified in a cohort of 85 families with MPS I, and identified nine common variants. Phenotypic information was available for a subset of individuals in whom neither or only one variant was a common variant. Up to date genotypes and phenotypic classification was obtained for 31 such individuals in whom both IDUA variants were identified (Clare Beesley, personal communication), and this was used as the test cohort (Supp. Table S5).

      This variant can be found in supp table s5, mentioned from a previous publication (Beesley et al., 2001).

      PreviouslyPublished NoEvidence SupplementalTable CAID:CA355963534 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/full/10.1002/humu.23301
  16. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Platelet collagen receptor Glycoprotein VI‐dimer recognizes fibrinogen and fibrin through their D‐domains, contributing to platelet adhesion and activation during thrombus formation
    1
    1. ClingenBaseline 26 Oct 2026
      Platelet collagen receptor Glycoprotein VI-dimer recognizesfibrinogen and fibrin through their D-domains, contributing toplatelet adhesion and activation during thrombus formation

      PMID: 29210180

      Gene: ITGA2B and ITGB3

      HGNC: 6138 and 6156

      NoEvidence: Article does not mention GT probands with specific variants in ITGA2B and/or ITGB3

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 NoEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    ncbi.nlm.nih.gov/pmc/articles/PMC5838801/pdf/JTH-16-389.pdf
  17. watermark.silverchair.com watermark.silverchair.com
    369.pdf
    1
    1. ClingenBaseline 26 Oct 2026
      Platelet Glycoprotein IIb-III, (ffIIbp3 Integrin) Confers Fibrinogen- and Ac tiva tion-Dependen t Aggregation on Heterologous Cells

      PMID: 2070074

      Gene: N/A

      HGNC: N/A

      NoEvidence: This article does not mention Glanzmann thrombasthenia probands with variants in ITGA2B and/or ITGB3; therefore, there is no evidence

      Note: Although there is no evidence regarding GT probands and variants-- there is some experimental assay evidence, where methods for the experiment may be useful

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 NoEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    watermark.silverchair.com/369.pdf
  18. Local file Local file
    REV_ISS_WEB_jop_1151_42-2 115..124
    1

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  19. Local file Local file
    Untitled document
    1
    1. ClingenBaseline 26 Oct 2026
      The Level of Laboratory Testing Requiredfor Diagnosis or Exclusion of a PlateletFunction Disorder Using Platelet Aggregationand Secretion Assays

      PMID: 19408197

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      NoEvidence: This article provides background information on Glanzmann thrombasthenia; however, does not mention probands or variants in ITGA2B and ITGB3

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 NoEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3

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  20. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Thrombin generation assays: accruing clinical relevance. - PubMed - NCBI
    1
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    ncbi.nlm.nih.gov/pubmed/15257016
  21. pdfs.semanticscholar.org pdfs.semanticscholar.org
    35f255229bd5960aa52baf2048a5c1996940.pdf
    1
    1. ClingenBaseline 26 Oct 2026
      Platelet Fibrinogen and Vitronectin in Glanzmann Thrombasthenia: Evidence Consistent With Specific Roles for Glycoprotein IIb/IIIa and a,P3 Integrins in Platelet Protein Trafficking

      PMID: 1726706

      Gene: ITGA2B and ITGB3

      HGNC: 6138 and 6156

      NoEvidence: This article does not mention Glanzmann thrombasthenia patients/probands with variants in ITGA2B and/or ITGB3; therefore, there is no evidence to report

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 NoEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    pdfs.semanticscholar.org/d277/35f255229bd5960aa52baf2048a5c1996940.pdf
  22. www.tandfonline.com www.tandfonline.com
    ITGA2B and ITGB3 gene mutations associated with Glanzmann thrombasthenia
    1
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    tandfonline.com/doi/pdf/10.1080/09537104.2017.1371291
  23. www.jbc.org.libproxy.lib.unc.edu www.jbc.org.libproxy.lib.unc.edu
    J. Biol. Chem.-1993-Gemmell-14586-9.pdf
    1
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    jbc.org.libproxy.lib.unc.edu/content/268/20/14586.full.pdf
  24. iopscience.iop.org iopscience.iop.org
    Fluorinated low-viscosity copolymer with enhanced release property for roll-to-plate UV nanoimprint lithography
    1
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    iopscience.iop.org/article/10.1088/1361-6528/ab40e9
  25. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Preclinical Development of a Hematopoietic Stem and Progenitor Cell Bioengineered Factor VIII Lentiviral Vector Gene Therapy for Hemophilia A
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC6196756/
  26. europepmc.org europepmc.org
    Glucose hypometabolism in the visual cortex proportional to disease severity in patients with essential blepharospasm.
    1
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    europepmc.org/articles/PMC6728873/
  27. journals.sagepub.com journals.sagepub.com
    Predictive Value of Slow and Fast EEG Oscillations for Methylphenidate Response in ADHD - Emel Sari Gokten, Emine Elif Tulay, Birsu Beser, Mine Elagoz Yuksel, Kemal Arikan, Nevzat Tarhan, Baris Metin, 2019
    1
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    journals.sagepub.com/doi/full/10.1177/1550059419863206
  28. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Phenotype prediction for mucopolysaccharidosis type I by in silico analysis
    5
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    pmc.ncbi.nlm.nih.gov/articles/PMC5496269/
  29. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Differences in MPS I and MPS II Disease Manifestations
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC8345985/
  30. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Safety of a pasteurized plasma‐derived Factor VIII and von Willebrand factor concentrate: analysis of 33 years of pharmacovigilance data
    1
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    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/full/10.1111/trf.14241
  31. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Plasma levels of plasminogen activator inhibitor‐1 and bleeding phenotype in patients with von Willebrand disease
    1
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    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/full/10.1111/hae.13206
  32. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Potential misdiagnosis of von Willebrand disease and haemophilia caused by ineffective mixing of thawed plasma
    1
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    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/full/10.1111/hae.13305
  33. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Development of a novel flow cytometric immunobead array to quantify VWF: Ag and VWF: GPIbR and its application in acute myocardial infarction
    1
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    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/full/10.1111/ejh.12905
  34. www-sciencedirect-com.libproxy.lib.unc.edu www-sciencedirect-com.libproxy.lib.unc.edu
    Occult cancer detection in patients with hemostatic disorder and venous thromboembolism
    1
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    www-sciencedirect-com.libproxy.lib.unc.edu/science/article/pii/S0049384817303547
  35. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Recombinant von Willebrand factor for severe gastrointestinal bleeding unresponsive to other treatments in a patient with type 2A von Willebrand disease: a case report
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC5642339/
  36. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Increase of von Willebrand factor with aging in type 1 von Willebrand disease: fact or fiction?
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC5664402/
  37. www-ahajournals-org.libproxy.lib.unc.edu www-ahajournals-org.libproxy.lib.unc.edu
    Ebstein’s Anomaly | Circulation
    1
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    www-ahajournals-org.libproxy.lib.unc.edu/doi/10.1161/CIRCULATIONAHA.106.619338
  38. www.sciencedirect.com www.sciencedirect.com
    The nature of respiratory muscle weakness in patients with late-onset Pompe disease
    1
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    sciencedirect.com/science/article/pii/S0960896619300550
  39. onlinelibrary.wiley.com onlinelibrary.wiley.com
    How we treat the platelet glycoprotein defects; Glanzmann thrombasthenia and Bernard Soulier syndrome in children and adults
    1
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    onlinelibrary.wiley.com/doi/full/10.1111/bjh.15409
  40. www.jbc.org www.jbc.org
    23554.full.pdf
    1
    1. ClingenBaseline 25 Oct 2026
      Involvement of Platelet Glycoprotein IIb-IIIa (aIIb-P3 Integrin) in Thrombin-induced Synthesis of Phosphatidylinositol 3’,4’- Bisphosphate

      PMID: 1660876

      Gene: ITGA2B and ITGB3

      HGNC: 6138 and 6156

      NoEvidence: This article does not mention Glanzmann thrombasthenia probands with variants in ITGA2B and/or ITGB3; therefore, there is no evidence

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 NoEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    jbc.org/content/266/35/23554.full.pdf
  41. www.tandfonline.com www.tandfonline.com
    Glanzmann's thrombasthenia: updated
    1
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    tandfonline.com/doi/pdf/10.1080/0953710021000024394
  42. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    β3-integrin–deficient mice are a model for Glanzmann thrombasthenia showing placental defects and reduced survival
    1
    1. ClingenBaseline 25 Oct 2026
      β3-integrin–deficient mice are a model for Glanzmann thrombasthenia showing placental defects and reduced survival

      PMID: 9916135

      Gene: ITGA2B and/or ITGB3

      NoEvidence: This article does not mention GT patients with variants in ITGA2B and/or ITBG3; therefore there is no evidence. Researchers in this study generated a strain of B3 null mice, these mice will allow analysis of other suggested functions of B3 integrins.

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 NoEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    ncbi.nlm.nih.gov/pmc/articles/PMC407888/
  43. ashpublications.org ashpublications.org
    Recombinant factor VIIa restores aggregation of αIIbβ3-deficient platelets via tissue factor–independent fibrin generation
    1
    1. ClingenBaseline 25 Oct 2026
      Recombinant factor VIIa restores aggregation of αIIbβ3-deficient platelets via tissue factor–independent fibrin generation

      PMID: 14592825

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      NoEvidence: This article does not mention GT patients with variants in ITGA2B and/or ITGB3; therefore, there is no evidence

      In this particular study, the effect of rFVIIa on the aggregation of αIIbβ3-deficient platelets was investigated in a system consisting of isolated platelets and purified coagulation factors.

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 NoEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    ashpublications.org/blood/article/103/5/1720/18188/Recombinant-factor-VIIa-restores-aggregation-of
  44. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Involvement of GPIIb-IIIa on Human Platelets in Phosphotyrosine-Specific Dephosphorylation
    1
    1. ClingenBaseline 25 Oct 2026
      Involvement of GPIIb-IIIa on Human Platelets in Phosphotyrosine-Specific Dephosphorylation

      PMID: 7687438

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      NoEvidence: This article does not mention Glanzmann thrombasthenia patients with variants in ITGA2B and ITGB3. Rather, This article reports another aspect of relationship between GPIIIb -IIIa and protein tyrosine phosphorylation, that is, the involvement of GPIIb-IIIa in dephosphorylation of certain tyrosine phosphorylated proteins

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 NoEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    pubmed.ncbi.nlm.nih.gov/7687438-involvement-of-gpiib-iiia-on-human-platelets-in-phosphotyrosine-specific-dephosphorylation/
  45. www.tandfonline.com www.tandfonline.com
    09537109309013224
    1
    1. ClingenBaseline 25 Oct 2026
      Hereditary Disorders of Platelet Function

      PMID: 21043747

      Gene: N/A

      HGNC: N/A

      NoEvidence: This article does not mention Glanzmann thrombasthenia patients with variants in ITGA2B and/or ITGB3; therefore, there is no evidence to report. This article gives a general overview of bleeding disorders including GT, and variants that have been reported in previous papers.

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 NoEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    tandfonline.com/doi/pdf/10.3109/09537109309013224
  46. www.ahajournals.org www.ahajournals.org
    Rapid and Simple Platelet Function Assay to Assess Glycoprotein IIb/IIIa Receptor Blockade | Circulation
    1
    1. ClingenBaseline 25 Oct 2026
      Rapid and Simple Platelet Function Assay to Assess Glycoprotein IIb/IIIa Receptor Blockade

      PMID: 9054743

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      NoEvidence: This article does not mention Glanzmann thrombasthenia patients/probands with variants in ITGA2B and/or ITGB3; therefore, there is no evidence to report

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 NoEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    ahajournals.org/doi/full/10.1161/01.cir.95.4.860
  47. www.sciencedirect.com www.sciencedirect.com
    Inherited platelet disorders : Management of the bleeding risk
    1
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    sciencedirect.com/science/article/pii/S1246782018300818
  48. link.springer.com link.springer.com
    Theoretical investigation of the structure, detonation properties, and stability of bicyclo[3.2.1]octane derivatives
    1
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    link.springer.com/article/10.1007/s00894-019-4116-2
  49. scielo.conicyt.cl scielo.conicyt.cl
    Liver transplantation in hemophilia A. Report of one case
    1
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    scielo.conicyt.cl/scielo.php
  50. link.springer.com link.springer.com
    Therapeutic potential of spheroids of stem cells from human exfoliated deciduous teeth for chronic liver fibrosis and hemophilia A
    1
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    link.springer.com/content/pdf/10.1007/s00383-019-04564-4.pdf
  51. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Phase 1, single‐dose escalating study of marzeptacog alfa (activated), a recombinant factor VIIa variant, in patients with severe hemophilia
    1
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    onlinelibrary.wiley.com/doi/full/10.1111/jth.14247
  52. Local file Local file
    OA 5_A short term_Kiran Shakya.indd
    1

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  53. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Metabolic Cardiomyopathies and Cardiac Defects in Inherited Disorders of Carbohydrate Metabolism: A Systematic Review
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC10218694/
  54. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Biochemical Characteristics of iPSC-Derived Dopaminergic Neurons from N370S GBA Variant Carriers with and without Parkinson’s Disease
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC10002967/
  55. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Three novel α-L-iduronidase mutations in 10 unrelated Chinese mucopolysaccharidosis type I families
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC3115308/
  56. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Case report: a rare case of Hunter syndrome (type II mucopolysaccharidosis) in a girl
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC6498611/
  57. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Pharmacokinetics, efficacy, and safety of a plasma-derived VWF/FVIII concentrate (VONCENTO) for on-demand and prophylactic treatment in patients with von Willebrand disease (SWIFT-VWD study)
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC5312726/
  58. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Long-term impact of joint bleeds in von Willebrand disease: a nested case-control study
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC5685243/
  59. www-sciencedirect-com.libproxy.lib.unc.edu www-sciencedirect-com.libproxy.lib.unc.edu
    Feasibility of the Von Willebrand disease PREVENT trial
    1
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    www-sciencedirect-com.libproxy.lib.unc.edu/science/article/pii/S0049384817303407
  60. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Screening of female family members of von Willebrand disease patients: utility of a modified screening tool in a high‐risk population
    1
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    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/full/10.1111/hae.13188
  61. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Life-threatening subdural hematoma after aortic valve replacement in a patient with Heyde syndrome: a case report
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC5549292/
  62. www-sciencedirect-com.libproxy.lib.unc.edu www-sciencedirect-com.libproxy.lib.unc.edu
    von Willebrand factor disruption and continuous-flow circulatory devices
    1
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    www-sciencedirect-com.libproxy.lib.unc.edu/science/article/pii/S105324981731848X
  63. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    A novel VWF variant associated with type 2 von Willebrand disease in German Wirehaired Pointers and German Shorthaired Pointers
    1
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    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/full/10.1111/age.12544
  64. pubs-rsc-org.libproxy.lib.unc.edu pubs-rsc-org.libproxy.lib.unc.edu
    Application of a strain rate gradient microfluidic device to von Willebrand's disease screening
    1
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    pubs-rsc-org.libproxy.lib.unc.edu/en/content/articlelanding/2017/lc/c7lc00498b
  65. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    The Association of Aging With Von Willebrand Factor Levels and Bleeding Risk in Type 1 Von Willebrand Disease
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC6714664/
  66. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Management of pregnancy and emergency caesarean delivery in a patient with type IIB von Willebrand disease and severe preeclampsia: A case report and literature review
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC6038013/
  67. www-thieme-connect-com.libproxy.lib.unc.edu www-thieme-connect-com.libproxy.lib.unc.edu
    Monitoring Therapy during Treatment of von Willebrand Disease
    1
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    www-thieme-connect-com.libproxy.lib.unc.edu/products/ejournals/html/10.1055/s-0036-1585080
  68. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Diabetes mellitus activates fetal gene program and intensifies cardiac remodeling and oxidative stress in aged spontaneously hypertensive rats
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC4015448/
  69. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Rescue of heart lipoprotein lipase-knockout mice confirms a role for triglyceride in optimal heart metabolism and function
    1
    1. ClingenBaseline 24 Oct 2026
      Rescue of heart lipoprotein lipase-knockout mice confirms a role for triglyceride in optimal heart metabolism and function

      PMID: 24085031

      Gene: MYH7

      HGNC: 7577

      "Defective energy intake and not the reduced uptake of fat-soluble vitamins or cholesterol is responsible for cardiac dysfunction in hLPL0 mice. In addition, our studies suggest that adaptations in cardiac metabolism contribute to the beneficial effects of exercise on the myocardium of patients with heart failure"

      General HGNC:7577 Gene:MYH7 NoEvidence inferred_gene_hgnc:7577 inferred_gene_source:hgnc_tag Cardiomyopathy Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC3882371/
  70. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Unique Transcriptional Profile of Sustained Ligand-Activated Preconditioning in Pre- and Post-Ischemic Myocardium
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC3749099/
  71. www.onlinecjc.ca www.onlinecjc.ca
    Nonsense Mutations in BAG3 are Associated With Early-Onset Dilated Cardiomyopathy in French Canadians
    1
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    onlinecjc.ca/article/S0828-282X(14)01445-7/fulltext
  72. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Bright tongue sign in patients with late-onset Pompe disease
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC6765469/
  73. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Different biochemical expression pattern of platelet surface glycoproteins suggests molecular diversity of Glanzmann's thrombasthenia in Iran. - PubMed - NCBI
    1
    1. ClingenBaseline 24 Oct 2026
      Different biochemical expression pattern of platelet surface glycoproteins suggests molecular diversity of Glanzmann's thrombasthenia in Iran.

      PMID: 23912132

      Genes: ITGA2B and ITGB3

      HGNC: 6138 and 6156

      NoEvidence: This article discusses GT; however no probands with variants in ITGA2B and ITGB3 are discussed.

      Note: Annotated on the PubMed Abstract because the journal this article is in, Blood Coagulation and Fibrinolysis does not work properly.

      ClinGen General ITGB3 ITGA2B HGNC:6138 HGNC:6156 NoEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    ncbi.nlm.nih.gov/pubmed/23912132
  74. Local file Local file
    Integrins on rat osteoclasts: Characterization of two monoclonal antibodies (F4 and F11) to rat [beta]3
    1

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  75. pdf.sciencedirectassets.com pdf.sciencedirectassets.com
    A point mutation leads to an unpaired cysteine residue and a molecular weight polymorphism of a functional platelet beta 3 integrin subunit. The Sra alloantigen system of GPIIIa.
    1
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    pdf.sciencedirectassets.com/778417/1-s2.0-S0021925817X31062/1-s2.0-S0021925817372137/main.pdf
  76. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    jcinvest00058-0261.pdf
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC295181/pdf/jcinvest00058-0261.pdf
  77. Local file Local file
    12179-56890-1-PB.pdf
    1

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  78. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    0912.tif
    1
    1. ClingenBaseline 24 Oct 2026
      Integrin-Dependent Phosphorylation and Activation of the Protein Tyrosine Kinase pp125 FAr in Platelets

      PMID: 1385445

      Gene: ITGA2B and ITGB3

      HGNC: 6138 and 6156

      NoEvidence: This article does not mention Glanzmann thrombasthenia patients with variants in ITGA2B and/or ITGB3; therefore, there is no evidence to report

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 NoEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    ncbi.nlm.nih.gov/pmc/articles/PMC2289696/pdf/jc1194905.pdf
  79. www.jbc.org www.jbc.org
    19248.full.pdf
    1
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    jbc.org/content/272/31/19248.full.pdf
  80. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Genetics and genomic medicine in Tunisia
    2
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    ncbi.nlm.nih.gov/pmc/articles/PMC5902400/
  81. www-sciencedirect-com.libproxy.lib.unc.edu www-sciencedirect-com.libproxy.lib.unc.edu
    Structural and clinical implications of amino acid substitutions in α-l-iduronidase: Insight into the basis of mucopolysaccharidosis type I
    2
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    www-sciencedirect-com.libproxy.lib.unc.edu/science/article/pii/S1096719213003351
  82. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC7422968/
  83. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Hematopoietic stem cell transplantation improves the high incidence of neutralizing allo-antibodies observed in Hurler’s syndrome after pharmacological enzyme replacement therapy
    1
    1. ClingenBaseline 24 Oct 2026
      Blood samples were collected from 28 MPSI H patients treated and followed up at the Royal Manchester Children’s Hospital over a 4-year period. The samples were collected with informed consent and under permission REC 08H101063 of the hospital’s ethical commission. The patients’ blood samples were processed within 6 h and the serum was separated and stored at −80°C. One group of patients was followed longitudinally and comprised patients who received ERT prior to HSCT (n=8). The second was a cross-sectional group of patients (n=20) studied at least 1 year after HSCT. One patient (patient 5) rejected the donor cells following HSCT and had autologous cells returned to restore hematologic function. This patient subsequently received a second allogeneic HSCT which was successful. Longitudinal data for this patient during both transplants are included in the results. The demographics, enzyme levels, details of HSCT, immune reconstitution, and immunosuppression for all patients in the longitudinal series are presented in Table 1. The transplant details and information on immunosuppression for all patients in the cross-sectional series are shown in Table 2.

      This seems like it could be the same proband as from the Kuwait family in PMID:22718273 since both were said to be cases at Royal Manchester Hospital

      PreviouslyPublished NoEvidence CA2802462 ClinVarID: 550421 inferred_gene_hgnc:5391 inferred_gene_source:CAID UNC Biocuration Core
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    pmc.ncbi.nlm.nih.gov/articles/PMC3436232/
  84. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Structural study on mutant alpha-L-iduronidases: insight into mucopolysaccharidosis type I
    1
    1. ClingenBaseline 24 Oct 2026
      The results indicated that large structural changes had occurred in the core region in the severe MPS I group and small ones on the molecular surface in the attenuated MPS I group.

      Article is a PDF, so annotating here. This paper created structural models to predict the phenotype. This variant is predicted to cause a severe phenotype, but this model is not used for PS3 or any other codes.

      NoEvidence CA355962322 inferred_gene_hgnc:5391 inferred_gene_source:CAID UNC Biocuration Core
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    pubmed.ncbi.nlm.nih.gov/18340403/
  85. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Long term follow-up after haematopoietic stem cell transplantation for mucopolysaccharidosis type I-H: a retrospective study of 51 patients
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC10005963/
  86. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Biallelic Optic Atrophy 1 (OPA1) Related Disorder—Case Report and Literature Review
    2
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    pmc.ncbi.nlm.nih.gov/articles/PMC9223020/
  87. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Mucopolysaccharidosis Type I
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC7151028/
  88. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Profil du facteur Von Willebrand dans la grossesse: étude descriptive chez 390 femmes enceintes au Maroc
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC6691299/
  89. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Single Domain Antibody Fragments as New Tools for the Detection of Neuronal Tau Protein in Cells and in Mice Studies. - PubMed - NCBI
    1
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    ncbi.nlm.nih.gov/pubmed/31380615
  90. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Design and characterisation of a novel interleukin-15 receptor alpha fusion protein and analysis of interleukin-15 complexation
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC6660064/
  91. link.springer.com link.springer.com
    Outcomes After Urgent Thyroidectomy Following Rapid Control of Thyrotoxicosis in Graves' Disease are Similar to Those After Elective Surgery in Well-Controlled Disease.
    1
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    link.springer.com/article/10.1007/s00268-019-05125-5
  92. Local file Local file
    Xanthommatin is Behind the Antioxidant Activity of the Skin of Dosidicus gigas
    1

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  93. pubs.acs.org pubs.acs.org
    Enhanced Rates of C–H Bond Cleavage by a Hydrogen-Bonded Synthetic Heme High-Valent Iron(IV) Oxo Complex
    1
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    pubs.acs.org/doi/10.1021/jacs.9b01253
  94. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Scheie syndrome diagnosed after cerebral infarction
    1
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    pubmed.ncbi.nlm.nih.gov/21167740/
  95. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Mucopolysaccharidosis I mutations in Chinese patients: identification of 27 novel mutations and 6 cases involving prenatal diagnosis
    2
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    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/10.1111/j.1399-0004.2011.01680.x
  96. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Novel frameshift variant in the IDUA gene underlies Mucopolysaccharidoses type I in a consanguineous Yemeni pedigree
    3
    1. ClingenBaseline 23 Oct 2026
      IV-2

      Case#: IV-2, Male, Yemeni, deceased at age 5 years

      DiseaseAssertion: Hurler Syndrome

      FamilyInfo: Parents are consanguineous first cousins (Pedigree figure #1)

      CasePresentingHPOs: HP:0001640, HP:0000280, HP:0002516 (Cardiomegaly, Coarse Facial Features, Intracranial hypertension)

      CaseHPOFreeText: Dysplasia

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: N/A

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

      GenotypingMethod: Sanger Sequencing

      Variant1: N/A

      Variant1ClinVarID: N/A

      Variant1CAID: N/A

      Variant2: N/A

      Variant2ClinVarID: N/A

      Variant2CAID: N/A

      AdditionalVariants: N/A

      ParentalGenotype: Both parents are heterozygous for the c.657delA variant of the gene (see pedigree @ figure#1)

      PreviouslyPublished N/A

      Gene:IDUA DiseaseEntity:MPS1 CaseInfo NoEvidence inferred_gene_hgnc:5391 inferred_gene_source:Gene_Name IDUA variant annotation
    2. ClingenBaseline 22 Oct 2026
      IV-1

      Case#: IV-1, Female, Yemeni, deceased at age 2 years

      DiseaseAssertion: Hurler Syndrome

      FamilyInfo: Parents are consanguineous first cousins (Pedigree figure #1)

      CasePresentingHPOs: HP:0001640, HP:0000280, HP:0002516 (Cardiomegaly, Coarse Facial Features, Intracranial hypertension)

      CaseHPOFreeText: Dysplasia

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: N/A

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

      GenotypingMethod: Sanger Sequencing

      Variant1: N/A

      Variant1ClinVarID: N/A

      Variant1CAID: N/A

      Variant2: N/A

      Variant2ClinVarID: N/A

      Variant2CAID: N/A

      AdditionalVariants: N/A

      ParentalGenotype: Both parents are heterozygous for the c.657delA variant of the gene (see pedigree @ figure#1)

      PreviouslyPublished N/A

      Gene:IDUA DiseaseEntity:MPS1 CaseInfo NoEvidence inferred_gene_hgnc:5391 inferred_gene_source:Gene_Name IDUA variant annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC5470527/
  97. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Neurologic Recovery in MPS I and MPS II Mice by AAV9-Mediated Gene Transfer to the CNS After the Development of Cognitive Dysfunction
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC10024071/
  98. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Ocular axial length and corneal refraction in children with mucopolysaccharidosis (MPS I-Hurler)
    1
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    pubmed.ncbi.nlm.nih.gov/20553232/
  99. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Adeno-Associated Virus Vector Mobilization, Risk Versus Reality
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC7585609/
  100. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Estimated prevalence of mucopolysaccharidoses from population-based exomes and genomes
    1
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    pubmed.ncbi.nlm.nih.gov/33208168/
  101. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Validation of automated latex von Willebrand factor activity assay in a new prospective study including post‐treatment patient samples
    1
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    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/full/10.1111/ijlh.12622
  102. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Diagnosis and Treatment of von Willebrand Disease and Rare Bleeding Disorders
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC5406777/
  103. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Molecular diagnosis of von Willebrand disease
    1
    1. ClingenBaseline 23 Oct 2026
      Molecular diagnosis of von Willebrand disease L. Baronciani Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico and Luigi Villa Foundation, Milan, ItalySearch for more papers by this author A. Goodeve Department of Infection, Immunity and Cardiovascular Disease, University of Sheffield Medical School, Sheffield, UKSearch for more papers by this author F. Peyvandi Corresponding Author flora.peyvandi@unimi.it orcid.org/http://orcid.org/0000-0001-7423-9864 Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico and Luigi Villa Foundation, Milan, Italy Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Milan, Italy Correspondence: Flora Peyvandi, Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico and Luigi Villa Foundation; Department of Pathophysiology and Transplantation, Università degli Studi di Milano, via Pace 9, 20122 Milan, Italy. Tel.: +39 02 5503 4456; fax: +39 02 5410 0125; e‐mail: flora.peyvandi@unimi.itSearch for more papers by this author

      PMID: 28220580

      Gene: VWF

      HGNCID: 12726

      ClinGen General Gene:VWF NoEvidence inferred_gene_hgnc:12726 inferred_gene_source:HGNC_body ClinGen VWF
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    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/full/10.1111/hae.13175
  104. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Efficacy of Octocog Alfa (Advate) in a Child with Type 3 von Willebrand Disease and Alloantibodies
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC5615278/
  105. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Comparative analysis of von Willebrand factor profiles after implantation of left ventricular assist device and total artificial heart
    1
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    onlinelibrary.wiley.com/doi/full/10.1111/jth.13753
  106. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Increased Vasoocclusive Crises in “O” Blood Group Sickle Cell Disease Patients: Association with Underlying Thrombospondin Levels
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC5419181/
  107. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Angiodysplasia in von Willebrand disease: Understanding the clinical and basic science
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC5949878/
  108. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Current challenges in the diagnosis and management of patients with inherited von Willebrand’s disease in Italy: an Expert Meeting Report on the diagnosis and surgical and secondary long-term prophylaxis
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC6034771/
  109. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Attenuation of Cardiomyocyte Hypertrophy via Depletion Myh7 using CASAAV
    1
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    pubmed.ncbi.nlm.nih.gov/33098074/
  110. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    The Changing Face of Infantile Pompe Disease: A Report of Five Patients from the UAE
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC3565631/
  111. reader.elsevier.com reader.elsevier.com
    PII: 0049-3848(92)90229-4
    1
    1. ClingenBaseline 23 Oct 2026
      EFFECTS OF TICLOPIDINE ON MONOCLONAL ANTI-CD9 ANTIBODY-INDUCED PLATELET AGGREGATION AND MICROPARTICLE GENERATIO

      PMID: 1604445

      Gene: ITGA2B and ITGB3

      HGNC: 6138 and 6156, respectively as shown above

      NoEvidence: This article does not mention Glanzmann thrombasthenia probands with variants in ITGA2B and/or ITGB3; therefore, there is no evidence. In this study, they analyzed the effects of ticloplidine on anti-CD9 antibody-induced platelet aggregation as well as on the release of microparticles by platelets exposed to the antibodies in vitro.

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 NoEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    URL

    reader.elsevier.com/reader/sd/pii/0049384892902294
  112. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Evaluation of platelet surface glycoproteins in patients with Glanzmann thrombasthenia: Association with bleeding symptoms
    1
    1. ClingenBaseline 23 Oct 2026
      Evaluation of platelet surface glycoproteins in patients with Glanzmann thrombasthenia: Association with bleeding symptoms

      PMID: 28948953

      Gene: ITGA2B and ITGB3

      HGNC: 6138 and 6156

      NoEvidence: There are no probands with specific variants-- rather, in this article, 51 patients of Glaznmann thrombasthenia were diagnosed by platelet aggregation studies and were evaluated for the expression of CD41, CD61, CD42a and CD42b on platelet surface by flow cytometry. The association between the clinical phenotype based on bleeding score and GT subtype on flow cytometric evaluation was assessed.

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 NoEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    ncbi.nlm.nih.gov/pmc/articles/PMC5644297/
  113. journals.sagepub.com journals.sagepub.com
    Clinical, Biochemical, and Molecular Aspects of Glanzmann's Thrombasthenia in Humans and Dogs - M. K. Boudreaux, D. L. Lipscomb, 2001
    1
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    journals.sagepub.com/doi/full/10.1354/vp.38-3-249
  114. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    jcinvest00058-0108.pdf
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC295144/pdf/jcinvest00058-0108.pdf
  115. www.tandfonline.com www.tandfonline.com
    Diagnosis of platelet function disorders: A standardized, rational, and modular flow cytometric approach
    1
    1. ClingenBaseline 23 Oct 2026
      Diagnosis of platelet function disorders: A standardized, rational, and modular flow cytometric approach

      PMID: 29227167

      Gene: ITGA2B and ITGB3

      HGNC: 6138 and 6156

      NoEvidence: This article is about developing a standardized and modular flow cytometric approach, that contributes to clarify impaired platelet function in a rational step by step manner. There is no mention of variants in probands for ITGA2B or ITGB3

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 NoEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    tandfonline.com/doi/full/10.1080/09537104.2017.1386297
  116. reader.elsevier.com reader.elsevier.com
    PII: S0049-3848(97)00223-5
    1
    1. ClingenBaseline 23 Oct 2026
      BlockingPlateletAggregationInhibitsThromboxaneA2FormationbyLowDoseAgonistsButDoesNotInhibitPhosphotylationandActivationofCytosolicPhospholipaseA2.

      PMID: 9361365

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156, respectively

      NoEvidence: This article does not mention Glanzmann thrombasthenia patients/probands with variants in ITGA2B and/or ITGB3. In this study, they made use of Ro 44-9883 as a potent non-peptide GPIIb/IIIa antagonist to address the relationship of platelet aggregation to PLA2 activation, TxA2 formation, and granule secretion.

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 NoEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    reader.elsevier.com/reader/sd/pii/S0049384897002235
  117. www.ahajournals.org www.ahajournals.org
    Platelet Integrin αIIbβ3 (GPIIb-IIIa) Is Not Implicated in the Binding of LDL to Intact Resting Platelets | Arteriosclerosis, Thrombosis, and Vascular Biology
    1
    1. ClingenBaseline 23 Oct 2026
      Platelet Integrin αIIbβ3 (GPIIb-IIIa) Is Not Implicated in the Binding of LDL to Intact Resting Platelets

      PMID: 9012651

      Gene: ITGA2B and ITGB3

      HGNC: 6138 and 6156

      NoEvidence: This article does not mention Glanzmann thrombasthenia patients/probands with variants in ITGA2B and/or ITGB3; therefore, there is no evidence to report

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 NoEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    ahajournals.org/doi/full/10.1161/01.atv.17.1.156
  118. jcs.biologists.org jcs.biologists.org
    jcs6596.q
    1
    1. ClingenBaseline 23 Oct 2026
      Talin distribution and phosphorylation in thrombin-activated platelets

      PMID: 8126100

      Gene: ITGA2B and ITGB3

      HGNC: 6138 and 6156

      NoEvidence: This article does not mention GT probands or variants in ITGA2B and ITGB3. In this study, researchers have examined the talin phosphorylation and proteolytic cleavage as possible mechanisms by which talin's subcellular distribution could be regulated in platelets.

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 NoEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    jcs.biologists.org/content/joces/106/4/1189.full.pdf
  119. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Inefficient Batteries in Heart Failure: Metabolic Bottlenecks Disrupting the Mitochondrial Ecosystem
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC9849281/
  120. www-sciencedirect-com.libproxy.lib.unc.edu www-sciencedirect-com.libproxy.lib.unc.edu
    Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients
    1
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    www-sciencedirect-com.libproxy.lib.unc.edu/science/article/pii/S1096719202002007
  121. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Dominant optic atrophy, OPA1, and mitochondrial quality control: understanding mitochondrial network dynamics
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC3856479/
  122. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Mutation analysis and clinical characterization of Iranian patients with mucopolysaccharidosis type I
    1
    1. ClingenBaseline 23 Oct 2026
      In another study, Atçeken et al10 analyzed 15 patients with MPSI from Turkey. They used direct sequencing to determine the disease‐caused mutations in IDUA gene and identify nine new different pathologic variants (c.494‐1G > A, c.793‐6C > G, c.793‐5C > A, p.M1L, p.Y64X, p.A327P, p.W402X, p.P533L, and p.R628X).

      This variant is mentioned in reference to a previously published report (PMID: 27511503)

      PreviouslyPublished NoEvidence CA2802462 ClinVarID: 550421 inferred_gene_hgnc:5391 inferred_gene_source:CAID UNC Biocuration Core
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    ncbi.nlm.nih.gov/pmc/articles/PMC6805319/
  123. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC5427524/
  124. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia
    1
    1. ClingenBaseline 23 Oct 2026
      These data were combined through CATCH,37 and after analysis of the results, three variants remained for further evaluation (Table S1) in genes PIGG (c.928C>T [p.Gln310∗] [GenBank: {"type":"entrez-nucleotide","attrs":{"text":"NM_001127178.2","term_id":"573459749","term_text":"NM_001127178.2"}}NM_001127178.2]), COQ5 (MIM: 616359; c.319G>A [p.Gly107Arg] [GenBank: {"type":"entrez-nucleotide","attrs":{"text":"NM_032314.3","term_id":"116063535","term_text":"NM_032314.3"}}NM_032314.3]), and RGS12 (MIM: 602512; c.188A>T [p.Gln63Leu] [GenBank: {"type":"entrez-nucleotide","attrs":{"text":"NM_002926.3","term_id":"108773791","term_text":"NM_002926.3"}}NM_002926.3]). All variants were confirmed by Sanger sequencing, and family segregation confirmed that the affected individuals, as well as the unaffected siblings, are heterozygous for the variants (Figure 3A). Variants in PIGG and COQ5 are not present in publically available databases, whereas the variant in RGS12 has a cumulative frequency of 4.95e−5 in the Exome Aggregation Consortium (ExAC) Browser.43 The variant in PIGG is nonsense, whereas the other two are missense.Open in a separate windowFigure 3Identified Variants(A) Sequencing chromatograms of the identified variant in family EG. The parents and unaffected siblings are heterozygous, whereas the affected individuals are homozygous for the c.928C>T mutation (noted by the black arrow).(B) Sequencing chromatograms of the identified variant in family JP. The father has the heterozygous c.2005C>T variant, but the mother does not (noted by the black arrow).(C) XHMM analysis using WES data of individual JP01. A microdeletion involving PIGG (chr4: 60,226–2,452,836) is indicated.(D) qPCR analysis of exons 7 and 12 of the PIGG genome from individual JP01 and her parents shows a heterozygous PIGG deletion in the affected individual, but not in her mother, suggesting that the deletion occurred de novo on the maternal chromosome.(E) Sequencing chromatograms of the identified variant in family PK are noted by the blue transparent boxes. The parents are heterozygous, and the affected individuals are homozygous for the c.2261+1G>C mutation.PIGG was considered the most prominent candidate because the variant identified causes a clear loss of function. A recent inquiry of the ExAC Browser verified that no homozygous loss-of-function variants have been reported and that the most common loss-of-function variant, c.1515G>A (p.Trp505∗) (GenBank: {"type":"entrez-nucleotide","attrs":{"text":"NM_001127178.2","term_id":"573459749","term_text":"NM_001127178.2"}}NM_001127178.2), has a minor allele frequency (MAF) of 0.0012 in the European population. This translates to a frequency of less than 1 in 600,000 individuals, compatible with a rare autosomal-recessive disorder.

      This family's affected individuals have some phenotypes consistent with COQ10 deficiency (hypotonia, seizures, uniform developmental delay or intellectual disability), but the COQ5 variant was heterozygous which is inconsistent with the MOI for COQ5-AR COQ10 deficiency. Additionally, variants in other genes were found that could explain the phenotype.

      NoEvidence CA6828861 inferred_gene_hgnc:28722 inferred_gene_source:CAID UNC Biocuration Core
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    ncbi.nlm.nih.gov/pmc/articles/PMC4833197/
  125. www-sciencedirect-com.libproxy.lib.unc.edu www-sciencedirect-com.libproxy.lib.unc.edu
    A homology model for human α-l-iduronidase: Insights into human disease
    1
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    www-sciencedirect-com.libproxy.lib.unc.edu/science/article/pii/S1096719204003245
  126. pubs.acs.org pubs.acs.org
    Toward Understanding the Antitumor Effects of Water-Soluble Fullerene Derivatives on Lung Cancer Cells: Apoptosis or Autophagy Pathways?
    1
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    pubs.acs.org/doi/10.1021/acs.jmedchem.9b00652
  127. www.sciencedirect.com www.sciencedirect.com
    Clinical assessment of cervical movement sense in those with neck pain compared to asymptomatic individuals
    1
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    sciencedirect.com/science/article/pii/S2468781218304673
  128. Local file Local file
    Role of chromogenic assays in haemophilia A and B diagnosis
    1

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  129. scielo.conicyt.cl scielo.conicyt.cl
    Adequate diagnosis of acquired hemophilia A
    1
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    scielo.conicyt.cl/scielo.php
  130. www.sciencedirect.com www.sciencedirect.com
    Extensive serum cytokine analysis in patients with prostate cancer
    1
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    sciencedirect.com/science/article/pii/S104346661930239X
  131. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Pathogenic Single Nucleotide Polymorphisms on Autophagy-Related Genes
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC7672651/
  132. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Mucopolysaccharidosis type I: identification of novel mutations that cause Hurler/Scheie syndrome in Chinese families
    1
    1. ClingenBaseline 22 Oct 2026
      Patient W3 has heterozygous mutations; the maternal allele has M1I (G to A transition in the initiation codon ATG) and the paternal allele has Y343X (C to G transversion in exon 8 leading to in frame deletion of codons 325-343 from the mRNA owing to false splicing)

      This paper is cited on the ClinVar page for this variant, but this is actually the c.1029C>G (p.Tyr343Ter) variant which causes the same amino acid change

      NoEvidence CAID:CA356984 ClinVarID:222997 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC1051126/
  133. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Whole blood ristocetin-activated platelet impedance aggregometry (Multiplate) for the rapid detection of Von Willebrand disease
    1
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    pubmed.ncbi.nlm.nih.gov/28692107/
  134. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Role of red blood cells in the anemia‐associated bleeding under high shear conditions
    1
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    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/full/10.1111/hae.13252
  135. www.sciencedirect.com www.sciencedirect.com
    Revascularization Operation for Moyamoya Disease with Concurrent von Willebrand Disease
    1
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    sciencedirect.com/science/article/pii/S1878875017314420
  136. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Prevalence and Risk Factors Associated With Hypertension in von Willebrand Disease
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC6714619/
  137. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Counterpoint: Blood volume–based von Willebrand factor to prevent postpartum hemorrhage in von Willebrand disease
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC5727819/
  138. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Management of pregnancy in type 3 von Willebrand disease with alloantibodies
    1
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    onlinelibrary.wiley.com/doi/full/10.1111/bjh.14805
  139. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Gene of the issue: GP1BA gene mutations associated with bleeding
    1
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    pubmed.ncbi.nlm.nih.gov/28961024/
  140. avmajournals-avma-org.libproxy.lib.unc.edu avmajournals-avma-org.libproxy.lib.unc.edu
    Outcome of laparoscopic ovariohysterectomy or ovariectomy in dogs with von Willebrand disease or factor VII deficiency: 20 cases (2012–2014)
    1
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    avmajournals-avma-org.libproxy.lib.unc.edu/view/journals/javma/251/9/javma.251.9.1053.xml
  141. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Comment on: Generation and optimization of the self-administered pediatric bleeding questionnaire and its validation as a screening tool for von Willebrand disease
    1
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    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/full/10.1002/pbc.26725
  142. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Case Report: Decreased severity of Shiga toxin-producing Escherichia coli haemolytic uraemic syndrome (STEC-HUS) in a child with type 1 von Willebrand disease
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC5589045/
  143. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Laboratory monitoring of replacement therapy for major surgery in von Willebrand disease
    1
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    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/full/10.1111/hae.13165
  144. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    von Willebrand Disease: A Concise Review and Update for the Practicing Physician
    1
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    pubmed.ncbi.nlm.nih.gov/27920237/
  145. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Outgrowing the laboratory diagnosis of type 1 von Willebrand disease: A two decade study
    1
    1. ClingenBaseline 22 Oct 2026
      Outgrowing the laboratory diagnosis of type 1 von Willebrand disease: A two decade study Mouhamed Yazan Abou-Ismail, Corresponding Author Mouhamed Yazan Abou-Ismail yazan.abouismail@case.edu orcid.org/0000-0002-6682-4366 Department of Medicine, Rochester General Hospital, Rochester, New YorkCorrespondence M. Yazan Abou-Ismail, University Hospitals, Cleveland Medical Center, Division of Hematology & Oncology, 11100 Euclid Avenue, Cleveland, OH 44106, USA. Email: yazan.abouismail@case.eduSearch for more papers by this authorGbolahan O. Ogunbayo, Gbolahan O. Ogunbayo orcid.org/0000-0002-4140-8067 Department of Medicine, Rochester General Hospital, Rochester, New YorkSearch for more papers by this authorMichelle Secic, Michelle Secic Secic Statistical Consulting Inc, Chardon, OhioSearch for more papers by this authorPeter A. Kouides, Peter A. Kouides orcid.org/0000-0002-3857-8313 Department of Medicine, Rochester General Hospital, Rochester, New York Mary M. Gooley Hemophila Center, Rochester, New YorkSearch for more papers by this author

      PMID: 29098718

      Gene: VWF

      HGNC: 12726 (type 1)

      Note: This article is about how VWF levels change as VWD patients age.

      ClinGen General Gene:VWF NoEvidence inferred_gene_hgnc:12726 inferred_gene_source:Gene_Name ClinGen VWF
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    onlinelibrary.wiley.com/doi/10.1002/ajh.24962
  146. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Von Willebrand Disease type 2 in pregnancy - A critical clinical association
    1
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    pubmed.ncbi.nlm.nih.gov/28559097/
  147. www.sciencedirect.com www.sciencedirect.com
    Mechanical stretch via transforming growth factor-β1 activates microRNA-208a to regulate hypertrophy in cultured rat cardiac myocytes
    1
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    sciencedirect.com/science/article/pii/S0929664613000533
  148. www.karger.com www.karger.com
    MicroRNA-22 Downregulation by Atorvastatin in a Mouse Model of Cardiac Hypertrophy: a new Mechanism for Antihypertrophic Intervention
    1
    1. ClingenBaseline 22 Oct 2026
      MicroRNA-22 Downregulation by Atorvastatin in a Mouse Model of Cardiac Hypertrophy: a new Mechanism for Antihypertrophic Intervention

      PMID: 23860036

      Gene: MYH7

      HGNC: 7577

      "This study demonstrates for the first time the modulation of miRNA-22 can be achieved by pharmacological intervention. The data generated from this study provides a rationale for the development of miRNA-based strategies for antihypertrophic treatment."

      General MYH7 HGNC:7577 NoEvidence inferred_gene_hgnc:7577 inferred_gene_source:hgnc_tag Cardiomyopathy Annotation
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    karger.com/Article/FullText/350117
  149. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Myopathies with finger flexor weakness: Not only inclusion-body myositis
    1
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    pubmed.ncbi.nlm.nih.gov/32478919/
  150. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    CTIP2 is a negative regulator of P-TEFb
    1
    1. ClingenBaseline 22 Oct 2026
      CTIP2 is a negative regulator of P-TEFb

      PMID: 23852730

      Gene: MYH7

      HGNC: 7577

      In hearts of hypertrophic cardiomyopathic mice, CTIP2 controls P-TEFb-sensitive pathways involved in the establishment of this pathology. Overexpression of the β-myosin heavy chain protein contributes to the pathological cardiac wall thickening. The inactive P-TEFb complex associates with CTIP2 at the MYH7 gene promoter to repress its activity. Taken together, our results strongly suggest that CTIP2 controls P-TEFb function in physiological and pathological conditions.

      General MYH7 HGNC:7577 NoEvidence inferred_gene_hgnc:7577 inferred_gene_source:hgnc_tag Cardiomyopathy Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC3732990/
  151. www.sciencedirect.com www.sciencedirect.com
    LC MS/MS identification of large structural proteins from bull muscle and their degradation products during post mortem storage
    1
    1. ClingenBaseline 22 Oct 2026
      LC MS/MS identification of large structural proteins from bull muscle and their degradation products during post mortem storage

      PMID: 24360430

      Gene: MYH7

      HGNC: 7577

      "we used liquid chromatography coupled to tandem mass spectrometry (LC–MS/MS) to identify all of the high molecular weight proteins and their degradation products during post mortem storage, in order to determine the changes of proteins in muscle during post mortem aging and its relationship with meat quality."

      General MYH7 NoEvidence HGNC:7577 inferred_gene_hgnc:7577 inferred_gene_source:hgnc_tag Cardiomyopathy Annotation
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    sciencedirect.com/science/article/pii/S0308814613016075
  152. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Differential expression of Nad(P)H oxidase isoforms and the effects of atorvastatin on cardiac remodeling in two-kidney two-clip hypertensive rats
    1
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    pubmed.ncbi.nlm.nih.gov/23700792/
  153. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Hypertrophic cardiomyopathy MYH7 mutation R723G alters mRNA secondary structure
    1
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    pubmed.ncbi.nlm.nih.gov/31790337/
  154. www-sciencedirect-com.libproxy.lib.unc.edu www-sciencedirect-com.libproxy.lib.unc.edu
    Compensation of the AKT signaling by ERK signaling in transgenic mice hearts overexpressing TRIM72
    1
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    www-sciencedirect-com.libproxy.lib.unc.edu/science/article/pii/S001448271300092X
  155. www.sciencedirect.com www.sciencedirect.com
    Alglucosidase alfa enzyme replacement therapy as a therapeutic approach for a patient presenting with a PRKAG2 mutation
    1
    1. ClingenBaseline 22 Oct 2026
      Alglucosidase alfa enzyme replacement therapy as a therapeutic approach for a patient presenting with a PRKAG2 mutation

      PMID: 27692944

      Gene: GAA

      Disease: Glycogen Storage Disease II

      MonDO: 0009290

      InheritancePattern: autosomal recessive

      NoEvidence: Case report of individual incorrectly diagnosed with Pompe carrying the NM_000152.4(GAA):c.-32-13T>G variant, he was eventually diagnosed correctly with PRKAG2 syndrome via a pathogenic variant.

      ClinGen General GAA NoEvidence inferred_gene_hgnc:4065 inferred_gene_source:RefSeq GAA variant
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    sciencedirect.com/science/article/pii/S1096719216302839
  156. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    At-Risk Testing for Pompe Disease Using Dried Blood Spots: Lessons Learned for Newborn Screening
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC7780922/
  157. journals.sagepub.com journals.sagepub.com
    CAT326165 152..165
    1
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    journals.sagepub.com/doi/pdf/10.1177/1076029608326165
  158. www.tandfonline.com www.tandfonline.com
    Classification of Iranian patients with Glanzmann's Thrombasthenia using a flow cytometric method
    1
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    tandfonline.com/doi/full/10.3109/09537104.2011.556275
  159. reader.elsevier.com reader.elsevier.com
    PII: S0022-2143(96)90133-X
    1
    1. ClingenBaseline 22 Oct 2026
      Characterization of a new hereditary thrombopathy in a closed colony of Wistar rats

      PMID: 8960644

      Gene: ITGA2B and ITGB3

      HGNC: 6138 and 6156

      NoEvidence: This article does not mention Glanzmann thrombasthenia patients/probands with variants in ITGA2B and/or ITGB3; therefore, there is no evidence to report. This study identifies and partially characterizes an inherited thrombopathy in a closed colony of Wistar rats.

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 NoEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    reader.elsevier.com/reader/sd/pii/S002221439690133X
  160. reader.elsevier.com reader.elsevier.com
    PII: 0049-3848(92)90236-4
    1
    1. ClingenBaseline 22 Oct 2026
      GLYCOPROTEIN h/Ha-MEDIATED ACTIVATION-DEPENDENT PLATELET ADHESION TO COLLAGEN

      PMID: 1579893

      Gene: ITGA2B and ITGB3

      HGNC: 6138 and 6156

      NoEvidence: This article does not mention Glanzmann thrombasthenia probands with variants in ITGA2B and/or ITGB3; therefore, there is no evidence. In this study, they developed an assay method of platelet adhesion to collagen in which citrated platelet rich plasma could be used as well as washed platelets in the presence of anti GPIIb/IIIa monoclonal antibody. Here, they provided the first direct evidence that the activation depended platelet adhesion to collagen is induced by ADP and that this adhesion is also mediated by GPIa/IIa.

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 NoEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    reader.elsevier.com/reader/sd/pii/0049384892902364
  161. Local file Local file
    Independent adjudicator assessments of platelet refractoriness and rFVIIa efficacy in bleeding episodes and surgeries from the multinational Glanzmann's thrombasthenia registry
    1
    1. ClingenBaseline 22 Oct 2026
      Independent adjudicator assessments of platelet refractorinessand rFVIIa efficacy in bleeding episodes and surgeries from themultinational Glanzmann’s thrombasthenia registry

      PMID: 28370369

      Gene: ITGA2B and ITGB3

      HGNC: 6138 and 6156

      NoEvidence: No GT probands or variants within ITGA2B or ITGB3 mentioned in this article

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 NoEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3

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  162. link.springer.com link.springer.com
    Identification of Clinicopathological Spectrum, Platelet Glycoprotein IIb/IIIa complex and Platelet Antibodies in Egyptian Children with Glanzmann’s Thrombasthenia
    1
    1. ClingenBaseline 22 Oct 2026
      Identification of Clinicopathological Spectrum, Platelet Glycoprotein IIb/IIIa complex and Platelet Antibodies in Egyptian Children with Glanzmann’s Thrombasthenia

      PMID: 28161816

      Gene: ITGA2B and ITGB3

      HGNC 6138 and 6156

      NoEvidence: The aim of this article's study was to evaluate the clinicopathological spectrum of this syndrome and to study the platelet glycoprotein IIb/IIIa complex and platelet antibodies by flow cytometry in a cohort of children with GT in a tertiary care center in Upper Egypt. There is no mention of individual probands with variants in ITGA2B or ITGB3

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 NoEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    link.springer.com/article/10.1007/s00005-017-0454-x
  163. ashpublications.org ashpublications.org
    Defects in Glanzmann thrombasthenia and LAD-III (LAD-1/v) syndrome: the role of integrin β1 and β3 in platelet adhesion to collagen
    1
    1. ClingenBaseline 22 Oct 2026
      Defects in Glanzmann thrombasthenia and LAD-III (LAD-1/v) syndrome: the role of integrin β1 and β3 in platelet adhesion to collagen

      PMID: 22065596

      Genes: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      NoEvidence: This article does not mention probands or variants in ITGA2B or ITGB3; however, there are some experimental assays for consideration

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 NoEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    ashpublications.org/blood/article/119/2/583/105498/Defects-in-Glanzmann-thrombasthenia-and-LAD-III
  164. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Molecular Insights into Determinants of Translational Readthrough and Implications for Nonsense Suppression Approaches
    1
    1. ClingenBaseline 22 Oct 2026
      Other MPS I-H nonsense mutations (W180X, Y343X, Q400X and R628X), harbored in the compound heterozygous state, were also challenged, resulting in relevant rescue upon treatment with the exception of the Y343X variant. The highest degree of functional rescue was observed for the R628X/W402X heterozygote, suggesting additive effects of the R628X mutation, whose sequence context (UGAC) is predicted to be highly susceptible to suppression over the unresponsive W402X [57].

      This paper evaluated factors shaping the outcome of readthrough, namely the nucleotide and protein context, with the latter being pivotal to produce functional full-length proteins. This variant was mentioned as a MPS I-H nonsense mutation, but no new case or experimental information.

      NoEvidence CA2802462 ClinVarID: 550421 inferred_gene_hgnc:5391 inferred_gene_source:CAID UNC Biocuration Core
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    ncbi.nlm.nih.gov/pmc/articles/PMC7764779/
  165. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals
    1
    1. ClingenBaseline 22 Oct 2026
      To assess the characteristics and distribution of causal variants for Mendelian disorders in the ChinaMAP, we filtered the pathogenic variants with the annotation of ClinVar database (20180603)22,23 and HGMD (Human Gene Mutation Database, 2016.2),24 and further analyzed the disease-causing variants following the guidelines from the ACMG (American College of Medical Genetics and Genomics).25 A total of 2026 variants or 1619 variants in the HGMD DM set were annotated as pathogenic or likely pathogenic by the ClinVar or ACMG, respectively (Fig. 3c and Supplementary information, Table S7).

      Database information for this variant was compiled on supplementary table s7, but no new case or experimental data.

      NoEvidence ClinVarID: 550421 CA2802462 inferred_gene_hgnc:5391 inferred_gene_source:CAID UNC Biocuration Core
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    ncbi.nlm.nih.gov/pmc/articles/PMC7609296/
  166. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Identification and characterization of 20 novel pathogenic variants in 60 unrelated Indian patients with mucopolysaccharidoses type I and type II
    1
    1. ClingenBaseline 22 Oct 2026
      Molecular analysis was done for all 30 patients and a total of 22 different disease-causing variants were identified: p.Met1?, c.158+5delinsAA, p.Ala75Pro, p.Ala75Thr, p.Leu121Pro, p.Trp180*, p.Gly253Cys, p.His262Thrfs*55, p.Glu299*, p.Lys324Arg, c.972-1G>T, p.Thr366Argfs*73, p.Asn372Ser, p.Leu387Pro, c.1402+1G>A, p.Leu490Pro, p.Met504Arg, c.1524+1G>C, p.Gln587*, p.Arg619*, p.Arg621* and p.Ser633Leu (http://www.hgvs.org/mutnomen/recs.html) (Table 1).

      This paper was listed in ClinVar, but only because it affects another residue (p.Ser633Leu) downstream which was mentioned in this paper.

      NoEvidence ClinVarID: 550421 CA2802462 inferred_gene_hgnc:5391 inferred_gene_source:CAID UNC Biocuration Core
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    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/full/10.1111/cge.12795
  167. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Report of 5 novel mutations of the α-L-iduronidase gene and comparison of Korean mutations in relation with those of Japan or China in patients with mucopolysaccharidosis I
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC4983032/
  168. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Worldwide distribution of common IDUA pathogenic variants
    2
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    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/10.1111/cge.13224
  169. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Effects of Exergames on Brain Dynamics in Women with Fibromyalgia: A Randomized Controlled Trial
    1
    1. ClingenBaseline 21 Oct 2026
      Effects of Exergames on Brain Dynamics in Women with Fibromyalgia: A Randomized Controlled Trial

      PMID: 31336706

      Gene: F8

      NoEvidence: The aim of was to evaluate the effects of a 24-week "Exergame intervention" on resting brain dynamics in women with fibromyalgia in a single-blinded, randomized controlled trial. No mention of Hemophilia A or F8 gene.

      ClinGen General Gene:F8 NoEvidence inferred_gene_hgnc:3546 inferred_gene_source:Gene_Name ClinGen Coag Fac Def VCEP
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    ncbi.nlm.nih.gov/pmc/articles/PMC6679308/
  170. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations
    1
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    pubmed.ncbi.nlm.nih.gov/11735025/
  171. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Two vitellogenins in the loliginid squid Uroteuthis edulis: Identification and specific expression in ovarian follicles
    1
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    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/full/10.1002/mrd.22786
  172. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Current and Emerging Options for the Management of Inherited von Willebrand Disease
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC5585291/
  173. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Controversies in the diagnosis of Type 1 von Willebrand disease
    1
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    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/full/10.1111/ijlh.12653
  174. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Von Willebrand's disease: case report and review of literature
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC5567960/
  175. academic.oup.com academic.oup.com
    Coagulation Testing in the Core Laboratory
    1
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    academic.oup.com/labmed/article/48/4/295/4604599
  176. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    A prospective diagnostic accuracy study evaluating rotational thromboelastometry and thromboelastography in 100 patients with von Willebrand disease
    1
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    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/full/10.1111/hae.13121
  177. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Bleeding score in Type 1 von Willebrand disease patients using the ISTH-BAT questionnaire
    1
    1. ClingenBaseline 21 Oct 2026
      Bleeding score in Type 1 von Willebrand disease patients using the ISTH-BAT questionnaire A. Pathare, Corresponding Author A. Pathare avp16@hotmail.com orcid.org/0000-0003-3205-0611 Department of Haematology, College of Medicine & Health Sciences, Sultan Qaboos University Hospital, Muscat, Oman Correspondence Dr. Anil Pathare, Department of Haematology, Sultan Qaboos University Hospital, Muscat, Oman. Email: avp16@hotmail.comSearch for more papers by this authorS. Al Omrani, S. Al Omrani Department of Haematology, College of Medicine & Health Sciences, Sultan Qaboos University Hospital, Muscat, OmanSearch for more papers by this authorF. Al Hajri, F. Al Hajri Department of Haematology, College of Medicine & Health Sciences, Sultan Qaboos University Hospital, Muscat, OmanSearch for more papers by this authorN. Al Obaidani, N. Al Obaidani Department of Haematology, College of Medicine & Health Sciences, Sultan Qaboos University Hospital, Muscat, OmanSearch for more papers by this authorB. Al Balushi, B. Al Balushi Department of Haematology, College of Medicine & Health Sciences, Sultan Qaboos University Hospital, Muscat, OmanSearch for more papers by this authorK. Al Falahi, K. Al Falahi Department of Haematology, College of Medicine & Health Sciences, Sultan Qaboos University Hospital, Muscat, OmanSearch for more papers by this author

      PMID: 29115727

      Gene: VWF

      HGNC: 12726 (type 1)

      Note: This article is about how the median ISTH-BAT questionnaire score for VWD type 1 was 7 (IQR; 2,11).

      ClinGen General Gene:VWF NoEvidence inferred_gene_hgnc:12726 inferred_gene_source:Gene_Name ClinGen VWF
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    onlinelibrary.wiley.com/doi/10.1111/ijlh.12761
  178. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Reply to comment on: Generation and optimization of the self-administered pediatric bleeding questionnaire and its validation as a screening tool for von Willebrand disease
    1
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    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/full/10.1002/pbc.26763
  179. www.jmmc-online.com www.jmmc-online.com
    Contractile abnormalities and altered drug response in engineered heart tissue from Mybpc3-targeted knock-in mice
    1
    1. ClingenBaseline 21 Oct 2026
      Contractile abnormalities and altered drug response in engineered heart tissue from Mybpc3-targeted knock-in mice

      PMID: 23896226

      Gene: MYH7

      HGNC: 7577

      "Myosin-binding protein C (Mybpc3)-targeted knock-in mice (KI) recapitulate typical aspects of human hypertrophic cardiomyopathy. We evaluated whether these functional alterations can be reproduced in engineered heart tissue (EHT) and yield novel mechanistic information on the function of cMyBP-C."

      General HGNC:7577 MYH7 NoEvidence inferred_gene_hgnc:7577 inferred_gene_source:hgnc_tag Cardiomyopathy Annotation
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    jmmc-online.com/article/S0022-2828(13)00233-2/fulltext
  180. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Deep basal inferoseptal crypts occur more commonly in patients with hypertrophic cardiomyopathy due to disease-causing myofilament mutations
    1
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    pubmed.ncbi.nlm.nih.gov/23771913/
  181. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Modeling CNS Involvement in Pompe Disease Using Neural Stem Cells Generated from Patient-Derived Induced Pluripotent Stem Cells
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC7822217/
  182. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Therapeutic expression of the platelet-specific integrin, αIIbβ3, in a murine model for Glanzmann thrombasthenia
    1
    1. ClingenBaseline 21 Oct 2026
      Therapeutic expression of the platelet-specific integrin, αIIbβ3, in a murine model for Glanzmann thrombasthenia

      PMID:* 15972454

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      NoEvidence: This article does not mention Glanzmann thrombasthenia patients/probands with variants in ITGA2B and/or ITGB3; therefore, there is no evidence to report

      Note: This article investigated the practicality of gene therapy for correcting molecular defects in platelets, and targeted expression of the human integrin β3-subunit in megakaryocytes of β3–/– mice affected with GT. Although, this does not apply to the Platelet Disorder VCEP functional criteria, this could be useful experimental assay information as this deals with mouse models

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 NoEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    ncbi.nlm.nih.gov/pmc/articles/PMC1895311/
  183. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Recognition and management of platelet-refractory bleeding in patients with Glanzmann’s thrombasthenia and other severe platelet function disorders
    1
    1. ClingenBaseline 21 Oct 2026
      Recognition and management of platelet-refractory bleeding in patients with Glanzmann’s thrombasthenia and other severe platelet function disorders

      PMID: 28435309

      Gene: ITGA2B and ITGB3

      HGNC: 6138 and 6156

      NoEvidence: This article reviews the rFVIIa clinical data in patients with GT and platelet refractoriness and discusses clinical implications relevant to the hospital-based physician. This article does not mention probands with variants in ITGA2B or ITGB3

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 NoEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    ncbi.nlm.nih.gov/pmc/articles/PMC5388206/
  184. Local file Local file
    Nutritional zinc increases platelet reactivity
    1

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  185. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    On the Role of Von Willebrand Factor in Promoting Platelet Adhesion to Fibrin in Flowing Blood
    1
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    pubmed.ncbi.nlm.nih.gov/7492773-on-the-role-of-von-willebrand-factor-in-promoting-platelet-adhesion-to-fibrin-in-flowing-blood/
  186. reader.elsevier.com reader.elsevier.com
    Inherited Bleeding Disorders in the Obstetric Patient
    1
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    reader.elsevier.com/reader/sd/pii/S0887796318300452
  187. reader.elsevier.com reader.elsevier.com
    PII: 0049-3848(91)90187-2
    1
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    reader.elsevier.com/reader/sd/pii/0049384891901872
  188. pdf.sciencedirectassets.com pdf.sciencedirectassets.com
    343_1.tif
    1
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    pdf.sciencedirectassets.com/273549/1-s2.0-S0950353698X80467/1-s2.0-S095035369880053X/main.pdf
  189. Local file Local file
    Untitled document
    1
    1. ClingenBaseline 21 Oct 2026
      The Role of the Platelet Glycoprotein IIb/IIIa in Thrombosis andHaemostasis

      PMID: 15134555

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      NoEvidence: This article does not mention Glanzmann thrombasthenia patients or variants in ITAG2B and/or ITGB3. This article gives more background on the molecular mechanisms of Glanzmann thrombasthenia

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 NoEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3

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  190. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Reply: Early-onset Behr syndrome due to compound heterozygous mutations in OPA1
    1
    1. ClingenBaseline 21 Oct 2026
      As Bonneau et al. (2014) correctly point out, we did describe two siblings from a non-consanguineous Norwegian family in our original Brain paper, who developed a particularly aggressive disease course characterized by ataxia, spasticity, peripheral neuropathy and myopathy (Yu-Wai-Man et al., 2010). OPA1 sequencing identified two pathogenic variants in both the affected brother and sister: the c.768C>G (p.Ser256Arg) missense mutation in exon 5b and the c.854A>G (p.Gln285Arg) missense mutation in exon 8. Bonneau et al. (2014) rightly queried whether we had actually proven compound heterozygosity in these two affected Norwegian siblings. Although DNA was not available from their deceased parents, we did have access to DNA samples from the brother’s two unaffected daughters and both harboured only the c.768C>G (p.Ser256Arg) substitution in exon 5b. Furthermore, haplotype analysis provided additional evidence that the proband and his affected sister were indeed compound heterozygous for the c.768C>G (p.Ser256Arg) and the c.854A>G (p.Gln285Arg) OPA1 mutations (Yu-Wai-Man et al., 2010).

      This variant is mentioned as a reference to a previous publication (PMID: 20157015) which has already been included in the VCI.

      PreviouslyPublished NoEvidence CAID:CA355787228 inferred_gene_hgnc:8140 inferred_gene_source:CAID UNC Biocuration Core
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    pmc.ncbi.nlm.nih.gov/articles/PMC4163031/