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    Interesting variations on how a disease is defined: comparisons of von Willebrand disease and Glanzmann thrombasthenia
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    1. ClingenBaseline 24 Oct 2026
      An example fromour work is a patient

      Case1: Gender, age, ethnicity not specified

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: N/A

      ParentalGenotype: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOsFreeText: N/A

      ProteinExpression: Patient had less than 20% of the normal surface expression of αIIbβ3

      PlateletAggregation: N/A

      CasePreviousTesting: N/A

      Gene: ITGA2B

      Variant: NM_000419.3:c.3077G>A (p.Arg1026Gln)

      LegacyVariant: N/A

      ClinVar: 50232

      CAiD: CA10575572

      gnomAD: MAF in the European (non-Finnish) population is 0.000008801http://gnomad.broadinstitute.org/variant/17-42449775-C-T

      PreviouslyPublished: PMID: N/A Title: Expanding the Mutation Spectrum affecting αIIbβ3 integrin in Glanzmann Thrombasthenia: Screening of the ITGA2B and ITGB3 genes in a Large International Cohort

      CaseInfo Individual Gene:ITGA2B InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Mutation:Polymorphism Zygosity:NoZygosityAssertion UnregisteredVariant ProteinExpression:Reported PlateletAggregation:NotReported PreviouslyPublished inferred_gene_hgnc:6138 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3

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