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  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Haematological spectrum and genotype-phenotype correlations in nine unrelated families with RUNX1 mutations from the French network on inherited platelet disorders
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    1. karim2001khoury 19 Feb 2026
      Haematological spectrum and genotype-phenotype correlations in nine unrelated families with RUNX1 mutations from the French network on inherited platelet disorders

      [Paper-level Aggregated] PMCID: PMC4845427

      Evidence Type(s): Predisposing, Oncogenic

      Justification: Predisposing: The text mentions germline RUNX1 alterations in a cohort, indicating that these variants are associated with an increased risk of developing conditions such as familial platelet disorder and acute myeloid leukemia. Oncogenic: The presence of RUNX1 alterations in patients with acute myeloid leukemia suggests that these variants may contribute to the development of cancer.

      Gene→Variant (gene-first): RUNX1(861):A to I

      Genes: RUNX1(861)

      Variants: A to I

      CIViC paper-level aggregated PMC4845427
    2. karim2001khoury 19 Feb 2026
      Platelet functional studies were carried out for 20 patients from eight unrelated pedigrees (A to I except B) and for patient J (Table 1). No such studies were performed for subjects belonging to pedigree B and for patie

      [Paragraph-level] PMCID: PMC4845427 Section: RESULTS PassageIndex: 29

      Evidence Type(s): None

      Justification: Not enough information in this passage.

      Gene→Variant (gene-first): 861:A to I

      Genes: 861

      Variants: A to I

      CIViC paragraph-level PMC4845427
    3. karim2001khoury 19 Feb 2026
      The French FPD/AML cohort consists of nine pedigrees (A to I) and two syndromic patients (J and K) with germline RUNX1 alterations identified in eight hospitals (La Timone and Paoli-Calmettes in Marseille; Nancy; La Piti

      [Paragraph-level] PMCID: PMC4845427 Section: RESULTS PassageIndex: 3

      Evidence Type(s): Predisposing

      Justification: Predisposing: The passage discusses germline RUNX1 alterations identified in pedigrees, indicating inherited risk for developing disease.

      Gene→Variant (gene-first): 861:A to I

      Genes: 861

      Variants: A to I

      CIViC paragraph-level PMC4845427 Predisposing
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    pmc.ncbi.nlm.nih.gov/articles/PMC4845427/pdf/13023_2016_Article_432.pdf