1,679 Matching Annotations
  1. Last 7 days
  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Infantile restrictive cardiomyopathy: cTnI-R170G/W impair the interplay of sarcomeric proteins and the integrity of thin filaments
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC7077804/
  3. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Double missense mutations in cardiac myosin‐binding protein C and myopalladin genes: A case report with diffuse coronary disease, complete atrioventricular block, and progression to dilated cardiomyopathy
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC7358828/
  4. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Extended genotype–phenotype spectrum of 17α-hydroxylase/17,20-lyase deficiency: a nine-case series featuring a novel mutation, suspected TART-like lesions, and multisystem involvement
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC13626915/
  5. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Genetic predisposition in chemotherapy‐induced cardiomyopathy in a 65‐year‐old female with metastatic breast cancer
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC11287295/
  6. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Novel Phenotype–Genotype Correlations of Restrictive Cardiomyopathy With Myosin-Binding Protein C (MYBPC3) Gene Mutations Tested by Next-Generation Sequencing
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC4608072/
  7. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Novel Mutation Lys30Glu in the TPM1 Gene Leads to Pediatric Left Ventricular Non-Compaction and Dilated Cardiomyopathy via Impairment of Structural and Functional Properties of Cardiac Tropomyosin
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC11641563/
  8. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Familial Dilated Cardiomyopathy caused by an Alpha-Tropomyosin Mutation: The Distinctive Natural History of Sarcomeric DCM
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC3000630/
  9. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Finding the candidate sequence variants for diagnosis of hypertrophic cardiomyopathy in East Slovak patients
    2
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    pmc.ncbi.nlm.nih.gov/articles/PMC6817085/
  10. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC4463499/
  11. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Functional Validation of a Novel Homozygous TTN Splice‐Site Variant Reveals Aberrant Splicing in Hypertrophic Cardiomyopathy
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC13542574/
  12. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Exome sequencing data reanalysis of 200 hypertrophic cardiomyopathy patients: the HYPERGEN French cohort 5 years after the initial analysis
    1
    1. ClingenBaseline 09 Nov 2026
      Exome sequencing data reanalysis of 200 hypertrophic cardiomyopathy patients: the HYPERGEN French cohort 5 years after the initial analysis

      PMID: 39554508

      Gene: TPM1

      HGNC ID: 12010

      Additional Information: The authors looked at exome data from 200 patients with HCM. They found no TPM1 variants in the HYPERGEN cohort.

      General Gene:TPM1 HGNC:12010 OpenAccess NoEvidence inferred_gene_hgnc:12010 inferred_gene_source:hgnc_tag Cardiomyopathy Annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC11565434/
  13. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    A Novel TPM1 Mutation Causes Familial Hypertrophic Cardiomyopathy in an Indian Family: Genetic and Clinical Correlation
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC10784234/
  14. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Novel Mutation Glu98Lys in Cardiac Tropomyosin Alters Its Structure and Impairs Myocardial Relaxation
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC10419091/
  15. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Targeted Next-Generation Sequencing Reveals Hot Spots and Doubly Heterozygous Mutations in Chinese Patients with Familial Cardiomyopathy
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC4495182/
  16. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Novel mutation associated with non‐compaction ventricular myocardium: A case report
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC12719828/
  17. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Exome Sequencing Identifies a Novel LMNA Splice-Site Mutation and Multigenic Heterozygosity of Potential Modifiers in a Family with Sick Sinus Syndrome, Dilated Cardiomyopathy, and Sudden Cardiac Death
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC4868298/
  18. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Natural history and clinical outcomes of patients with hypertrophic cardiomyopathy from thin filament mutations
    1
    1. ClingenBaseline 09 Nov 2026
      Natural history and clinical outcomes of patients with hypertrophic cardiomyopathy from thin filament mutations

      PMID: 38773858

      Gene: TPM1

      HGNC ID: 12010

      Additional Information: This review included patients with HCM and TPM1 variants. The results are reported by group. Table S3 shows what information each study provided. It does not link a specific TPM1 variant to an individual patient.

      General Gene:TPM1 HGNC:12010 OpenAccess inferred_gene_hgnc:12010 inferred_gene_source:hgnc_tag Cardiomyopathy Annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC11631233/
  19. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Novel Familial Dilated Cardiomyopathy Mutation in MYL2 Affects the Structure and Function of Myosin Regulatory Light Chain
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC4472530/
  20. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Identification of an elusive spliceogenic MYBPC3 variant in an otherwise genotype-negative hypertrophic cardiomyopathy pedigree
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC9068804/
  21. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Functional assays reveal the pathogenic mechanism of a de novo tropomyosin variant identified in patient with dilated cardiomyopathy
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC11285302/
  22. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    A novel Troponin I mutation associated with severe restrictive cardiomyopathy—a case report of a 27-year-old woman with fatigue
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC8843866/
  23. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Three Novel Pathogenic Variants in Unrelated Vietnamese Patients with Cardiomyopathy
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC11640685/
  24. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Pathogenic Variants Associated With Dilated Cardiomyopathy Predict Outcome in Pediatric Myocarditis
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC8373449/
  25. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    MYBPC3 (c.194 C > T) mutation-mediated RyR2 dysfunction contributes to pathogenic phenotypes of DCM revealed by HiPSC modeling
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC12932816/
  26. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Genotypic effect of a mutation of the MYBPC3 gene and two phenotypes with different patterns of inheritance
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC6817065/
  27. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Identification of novel mutations including a double mutation in patients with inherited cardiomyopathy by a targeted sequencing approach using the Ion Torrent PGM system
    1
    1. ClingenBaseline 08 Nov 2026
      A86

      Case#: Male, 47

      DiseaseAssertion: hypertrophic cardiomyopathy

      FamilyInfo: NR

      ParentalTesting: NR

      CasePresentingHPOs: HP:0025169, HP:0034307, HP:0001712,

      CaseHPOFreeText: Severe alterations in inter ventricular septum thickness and left ventricular posterior wall thickness

      CaseNotHPOs: NR

      CaseNotHPOFreeText: NR

      CasePreviousTesting: NR

      Genotyping Method: Sanger sequencing

      FunctionalAnalysis: NA

      Variant: NM_001276345.2:c.423G>A

      ClinVar: NR

      CAID: CA422532259

      gnomAD: NR

      AdditionalInfo: IVST, average of 19.2 mm and LVPWT; average of 11.5 mm

      Gene:TNNT2 General CaseInfo HGNC:11949 DiseaseEntity:HCM HP:0025169 HP:0034307 HP:0001712 Zygosity:NoZygosityAssertion InheritancePattern:NoInheritanceAssertion inferred_gene_hgnc:11949 inferred_gene_source:hgnc_tag Cardiomyopathy Annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC4867886/
  28. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Case report: cosegregation of a TPM1 in-frame deletion (p.Lys7del) with familial non-compaction cardiomyopathy (NCCM)
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC11026255/
  29. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Different Phenotypes in Monozygotic Twins, Carriers of the Same Pathogenic Variant for Hypertrophic Cardiomyopathy
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC9506491/
  30. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    A Novel TNNI3 Gene Mutation (c.235C>T/ p.Arg79Cys) Found in a Thirty-eight-year-old Women with Hypertrophic Cardiomyopathy
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC7874710/
  31. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Reanalysis of Next-generation Sequencing Data in Patients With Hypertrophic Cardiomyopathy: Contribution of Spliceogenic MYBPC3 Variants in an Italian Cohort
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC11609707/
  32. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    A novel variant in MYBPC3 causes hypertrophic cardiomyopathy by haploinsufficiency
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC12551867/
  33. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Whole Exome Sequencing Identifies a Troponin T Mutation Hot Spot in Familial Dilated Cardiomyopathy
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC3812167/
  34. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Digenic sarcomeric variants in paediatric dilated cardiomyopathy and maternal peripartum cardiomyopathy: a familial case report
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC12919360/
  35. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Genetic Screening Reveals Heterogeneous Clinical Phenotypes in Patients with Dilated Cardiomyopathy and Troponin T2 Variants
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC10145473/
  36. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Troponin T Mutation as a Cause of Left Ventricular Systolic Dysfunction in a Young Patient with Previous Surgical Correction of Aortic Coarctation
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC8148585/
  37. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Rare variant mutations identified in pediatric patients with dilated cardiomyopathy
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC3072577/
  38. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    The role of sarcomere gene mutations in patients with idiopathic dilated cardiomyopathy
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC2986634/
  39. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Variant R94C in TNNT2‐Encoded Troponin T Predisposes to Pediatric Restrictive Cardiomyopathy and Sudden Death Through Impaired Thin Filament Relaxation Resulting in Myocardial Diastolic Dysfunction
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC7335540/
  40. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Rare variant mutations in pregnancy-associated or peripartum cardiomyopathy
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC2900861/
  41. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Multiple Independent Gene Disorders Causing Bardet–Biedl Syndrome, Congenital Hypothyroidism, and Hearing Loss in a Single Indian Patient
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC10452740/
  42. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    A novel nonsense mutation in TNNT2 in a Chinese pedigree with hypertrophic cardiomyopathy: A case report
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC7447477/
  43. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Serine biosynthesis as a novel therapeutic target for dilated cardiomyopathy
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC9794189/
  44. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Mutation Type is Not Clinically Useful in Predicting Prognosis in Hypertrophic Cardiomyopathy
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC6309993/
  45. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Functional annotation of TNNT2 variants of uncertain significance with genome-edited cardiomyocytes
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC6309910/
  46. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    A TNNT2 variant in a sporadic case of dilated cardiomyopathy: a case report and review
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC13061692/
  47. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Diagnostic Yield of Whole Exome Sequencing in Pediatric Dilated Cardiomyopathy
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC5715713/
  48. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Genetic cardiomyopathy mimicking isolated cardiac sarcoidosis: Diagnostic challenges with positron emission tomography
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC12055401/
  49. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Air bubbles around the heart: a rare case report of pneumohydropericardium in heart transplantation
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC11851115/
  50. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Late Onset Sporadic Dilated Cardiomyopathy Caused by a Cardiac Troponin T Mutation
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC2965560/
  51. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    CLC_20795.DVV
    1
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    pmc.ncbi.nlm.nih.gov/articles/instance/6653452/pdf/CLC-33-430.pdf
  52. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Whole genome sequencing in paediatric channelopathy and cardiomyopathy
    1
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    pubmed.ncbi.nlm.nih.gov/38586174/
  53. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Cardiac Alpha-Myosin (MYH6) Is the Predominant Sarcomeric Disease Gene for Familial Atrial Septal Defects
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC3237499/
  54. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Identification of variants in genes associated with hypertrophic cardiomyopathy in Mexican patients
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC10657276/
  55. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Novel Intragenic PAX6 Deletion in a Pedigree with Aniridia, Morbid Obesity, and Diabetes
    1
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    pubmed.ncbi.nlm.nih.gov/31361967/
  56. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    The TNNI3 Arg192His mutation in a 13-year-old girl with left ventricular noncompaction
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC6149604/
  57. www.ahajournals.org www.ahajournals.org
    Chronic Activation of Tubulin Tyrosination Improves Heart Function | Circulation Research
    1
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    ahajournals.org/doi/10.1161/circresaha.124.324387
  58. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Molecular autopsy and family screening in a young case of sudden cardiac death reveals an unusually severe case of FHL1 related hypertrophic cardiomyopathy
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC6687666/
  59. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Hydroxychloroquine Cardiotoxicity and Sarcomeric Hypertrophic Cardiomyopathy
    1
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    pubmed.ncbi.nlm.nih.gov/40514126/
  60. Nov 2026
  61. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Myosin-binding Protein C Compound Heterozygous Variant Effect on the Phenotypic Expression of Hypertrophic Cardiomyopathy
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC5421475/
  62. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Setting up Multiplex Panels for Genetic Testing of Familial Hypertrophic Cardiomyopathy Based on Linkage Analysis
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC4851747/
  63. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    A myosin activator improves actin assembly and sarcomere function of human-induced pluripotent stem cell-derived cardiomyocytes with a troponin T point mutation
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC4967204/
  64. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Identification of sarcomeric variants in probands with a clinical diagnosis of arrhythmogenic right ventricular cardiomyopathy (ARVC)
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC6055742/
  65. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Is genomic screening necessary for fetuses who suffer moderate to severe tricuspid regurgitation? A case report
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC6890352/
  66. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Novel Genetic Variants in BAG3 and TNNT2 in a Swedish Family with a History of Dilated Cardiomyopathy and Sudden Cardiac Death
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC5514196/
  67. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Furthering the Link Between the Sarcomere and Primary Cardiomyopathies: Restrictive Cardiomyopathy Associated with Multiple Mutations in Genes Previously Associated With Hypertrophic or Dilated Cardiomyopathy
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC3158811/
  68. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Establishing disease causality for a novel gene variant in familial dilated cardiomyopathy using a functional in-vitro assay of regulated thin filaments and human cardiac myosin
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC4620603/
  69. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Identification of novel mutations including a double mutation in patients with inherited cardiomyopathy by a targeted sequencing approach using the Ion Torrent PGM system
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC4867886/
  70. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Founder mutation in myosin-binding protein C with an early onset and a high penetrance in males
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC8483030/
  71. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Effectiveness of whole exome sequencing in unsolved patients with a clinical suspicion of a mitochondrial disorder in Estonia
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC6043467/
  72. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Mixed Hypertrophic and Dilated Phenotype of Cardiomyopathy in a Patient With Homozygous In-Frame Deletion in the MyBPC3 Gene Treated as Myocarditis for a Long Time
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC7546790/
  73. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Autosomal recessive cardiomyopathy and sudden cardiac death associated with variants in MYL3
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC8026398/
  74. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Ventricular Tachycardia in a Young Athlete With Prior Myocarditis and MYL2 Mutation
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC13379853/
  75. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    MYL2-associated congenital fiber-type disproportion and cardiomyopathy with variants in additional neuromuscular disease genes; the dilemma of panel testing
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC6672024/
  76. Oct 2026
  77. 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/
  78. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Pediatric hypertrophic cardiomyopathy caused by a novel TNNI3 variant
    1
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    URL

    pmc.ncbi.nlm.nih.gov/articles/PMC10978967/
  79. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Diverse Phenotypic Expression of Cardiomyopathies in a Family with TNNI3 p.Arg145Trp Mutation
    1
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    URL

    pmc.ncbi.nlm.nih.gov/articles/PMC5378035/
  80. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    A case report of recessive restrictive cardiomyopathy caused by a novel mutation in cardiac troponin I (TNNI3)
    1
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    URL

    pmc.ncbi.nlm.nih.gov/articles/PMC6451262/
  81. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Progressive Deterioration of the Right Ventricular Function in a Patient with Non-Obstructive HCM Complicated by Atrial Fibrillation: A Case Presentation
    1
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    URL

    pmc.ncbi.nlm.nih.gov/articles/PMC12254914/
  82. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    TNNI3 and KCNQ1 co-inherited variants in a family with hypertrophic cardiomyopathy and long QT phenotypes: A case report
    1
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    URL

    pmc.ncbi.nlm.nih.gov/articles/PMC7985525/
  83. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    A Potential Oligogenic Etiology of Hypertrophic Cardiomyopathy, A Classic Single Gene Disorder
    1
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    URL

    pmc.ncbi.nlm.nih.gov/articles/PMC5380229/
  84. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    The role of sarcomere gene mutations in patients with idiopathic dilated cardiomyopathy
    1
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    URL

    pmc.ncbi.nlm.nih.gov/articles/PMC2986634/
  85. ashpublications.org ashpublications.org
    A potential role for α-actinin in inside-out αIIbβ3 signaling
    1
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    ashpublications.org/blood/article/117/1/250/28748/A-potential-role-for-actinin-in-inside-out-IIb-3
  86. www.sciencedirect.com www.sciencedirect.com
    Inherited traits affecting platelet function
    1
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    sciencedirect.com/science/article/pii/S0268960X07000719
  87. link.springer.com link.springer.com
    Successful management of perioperative hemostasis in a patient with Glanzmann thrombasthenia who underwent a right total mastectomy
    1
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    URL

    link.springer.com/article/10.1007/s12185-016-2096-x
  88. reader.elsevier.com reader.elsevier.com
    PII: S0049-3848(99)00034-1
    1
    1. ClingenBaseline 27 Oct 2026
      Inhibition of Platelet Aggregation byAbciximab but Not by Aspirin Can BeDetected by a New Point-of-Care Test, the Hemostatus

      PMID: 10418797

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This article mentions a Glanzmann thrombasthenia patient; however, there is no mention of variants in ITGA2B and/or ITGB3; therefore, there is insufficient evidence

      PreviouslyPublished: The GT patient in this article has been previously published in this PMID: 2180491

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 InsufficientEvidence PreviouslyPublished inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    reader.elsevier.com/reader/sd/pii/S0049384899000341
  89. 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
  90. 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
  91. Local file Local file
    CPLA_A_573600_P 547..551
    1

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  92. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Successful Management of Acute Catastrophic Juvenile Vaginal Bleeding in Glanzmann's Thromboasthenia by Uterine Tamponade: A Case Report and Review of The Literature
    1
    1. ClingenBaseline 27 Oct 2026
      Successful Management of Acute Catastrophic Juvenile Vaginal Bleeding in Glanzmann's Thromboasthenia by Uterine Tamponade: A Case Report and Review of The Literature

      PMID: 22928124

      Genes: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This article reports a case of acute catastrophic vaginal bleeding in a girl, who was diagnosed with GT and responded to uterine tamponade for acute control of vaginal bleeding; however, no variants in ITGA2B and/or ITGB3 are mentioned in this article therefore we have insufficient evidence

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

    ncbi.nlm.nih.gov/pmc/articles/PMC3420404/
  93. 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
  94. 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
  95. watermark.silverchair.com watermark.silverchair.com
    4712.pdf
    1
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    watermark.silverchair.com/4712.pdf
  96. www.ahajournals.org www.ahajournals.org
    Platelet Glycoprotein IIb/IIIa Receptors and Glanzmann’s Thrombasthenia | Arteriosclerosis, Thrombosis, and Vascular Biology
    1
    1. ClingenBaseline 27 Oct 2026
      Platelet Glycoprotein IIb/IIIa Receptors and Glanzmann’s Thrombasthenia Deborah L. French and Uri SeligsohnFrom the Mount Sinai School of Medicine (D.L.F.), New York, NY, and The Chaim Sheba Medical Center (U.S.), Tel-Hashomer, Israel.

      PMID: 10712380

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This review mentions many variants in ITGA2B and ITGB3; however, there are no probands to tie these variants to therefore there is insufficient evidence

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 InsufficientEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    ahajournals.org/doi/full/10.1161/01.atv.20.3.607
  97. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Double heterozygosity of the GPIIb gene in a Swiss patient with Glanzmann's thrombasthenia
    1
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    onlinelibrary.wiley.com/doi/full/10.1046/j.1365-2141.1998.00852.x
  98. 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/
  99. reader.elsevier.com reader.elsevier.com
    doi:10.1016/S1040-8428(03)00117-3
    1
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    reader.elsevier.com/reader/sd/pii/S1040842803001173
  100. www.haematologica.org www.haematologica.org
    A simple, novel and robust test to diagnose type I Glanzmann thrombasthenia
    1
    1. ClingenBaseline 27 Oct 2026
      A simple, novel and robust test to diagnose type I Glanzmann thrombasthenia

      PMID: 18450741

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      InusufficientEvidence: This article used a bifunctional bioengineered disintegrin/alkaline phosphatase hybrid protein ErAPv to evaluate 14 consecutive cases of Glanzmann thrombasthenia and 20 normal healthy controls. Thererefore, GT probands are mentioned; however, no specific variants in ITGA2B and/or ITBG3 have been mentioned in these patients

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 InsufficientEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    haematologica.org/content/93/5/797
  101. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    A Rare Case of Bleeding Disorder: Glanzmann's Thrombasthenia
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC5676411/
  102. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    High-level transgene expression in induced pluripotent stem cell–derived megakaryocytes: correction of Glanzmann thrombasthenia
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC3907760/
  103. www.jimmunol.org www.jimmunol.org
    Human IgG Monoclonal Anti-αIIbβ3-Binding Fragments Derived from Immunized Donors Using Phage Display
    1
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    jimmunol.org/content/168/4/2035
  104. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    pnas01058-0202.pdf
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC51405/pdf/pnas01058-0202.pdf
  105. www.sciencedirect.com www.sciencedirect.com
    Should studies on Glanzmann thrombasthenia not be telling us more about cardiovascular disease and other major illnesses?
    1
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    sciencedirect.com/science/article/pii/S0268960X17300073
  106. onlinelibrary.wiley.com onlinelibrary.wiley.com
    From thrombasthenia to next generation thrombocytopenia: Neonatal alloimmune thrombocytopenia induced by maternal Glanzmann thrombasthenia
    1
    1. ClingenBaseline 27 Oct 2026
      From thrombasthenia to next generation thrombocytopenia: Neonatal alloimmune thrombocytopenia induced by maternal Glanzmann thrombasthenia

      PMID: 30216638

      Gene: ITGA2B and ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This article mentions mothers with GT and their newborns. Table 1 shows very general/vague genetic data for the mothers, it is not easy to determine what the actual genetic defects are from Table 1; therefore, there is insufficient evidence

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 InsufficientEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    onlinelibrary.wiley.com/doi/full/10.1002/pbc.27376
  107. 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
  108. Local file Local file
    untitled
    1
    1. ClingenBaseline 27 Oct 2026
      Allogeneic Hematopoietic Stem Cell Transplantation in Glanzmann Thrombasthenia Complicated by Platelet Alloimmunization

      PMID: 21567370

      Gene: ITGA2B and ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This article mentions a proband with GT; however, no mention of the proband with variants in ITGA2B and ITGB3

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

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  109. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    ajhg00052-0146.pdf
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC1682221/pdf/ajhg00052-0146.pdf
  110. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    1021183.pdf
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC509101/pdf/1021183.pdf
  111. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Treatment of latent tuberculosis in a child with mucopolysaccharidosis type I receiving enzyme replacement therapy: A case report
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC9424730/
  112. www.tandfonline.com www.tandfonline.com
    A novel 196Leu to Pro substitution in the beta 3 subunit of the alpha IIbbeta 3 integrin in a patient with a variant form of Glanzmann thrombasthenia
    1
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    tandfonline.com/doi/pdf/10.1080/09537100220122466
  113. www.jbc.org www.jbc.org
    The Role of Conserved Amino Acid Motifs within the Integrin β3 Cytoplasmic Domain in Triggering Focal Adhesion Kinase Phosphorylation
    1
    1. ClingenBaseline 26 Oct 2026
      The Role of Conserved Amino Acid Motifs within theIntegrinb3Cytoplasmic Domain in Triggering FocalAdhesion Kinase Phosphorylation*

      PMID: 9065456

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This article mentions variants in ITGA2B and/or ITGB3; however, no specific GT probands are mentioned harboring these variants mentioned therefore there is insufficient evidence

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 InsufficientEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    jbc.org/content/272/12/7892.full.pdf
  114. Local file Local file
    Qualitative disorders of platelets and megakaryocytes
    1

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  115. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Platelet and granulocyte alloimmunisation in multitransfused Tunisian patients
    1
    1. ClingenBaseline 26 Oct 2026
      Platelet and granulocyte alloimmunisation in multitransfused Tunisian patients

      PMID: 16104882

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: The purpose of our study was to determine the frequency of alloimmunisation against platelets and leukocytes in multiply transfused Tunisian patients; there are 3 GT probands in this article; however, no mention of variants in ITGA2B and/or ITBG3; therefore, we have insufficient evidence

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

    onlinelibrary.wiley.com/doi/full/10.1111/j.1600-0609.2005.00494.x
  116. onlinelibrary.wiley.com onlinelibrary.wiley.com
    A naturally occurring mutation near the C terminus of the β‐propeller of αIIb impair the transport of αIIbβ3 complexes from the endoplasmic reticulum to the Golgi apparatus
    1
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    URL

    onlinelibrary.wiley.com/doi/full/10.1111/j.1538-7836.2005.01386.x
  117. 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
  118. Local file Local file
    Novel mutations in Thai patients with glanzmann thrombasthenia
    1

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  119. Local file Local file
    A 10-Base-Pair Deletion in the Gene Encoding Platelet Glycoprotein IIb Associated with Glanzmann Thrombasthenia in a Horse
    1
    1. ClingenBaseline 26 Oct 2026
      A 10-Base-Pair Deletion in the Gene Encoding Platelet GlycoproteinIIb Associated with Glanzmann Thrombasthenia in a Horse

      PMID: 17338169

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This article discusses a 10 base pair deletion in GT; however, in a horse, not human therefore there is insufficient evidence

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

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  120. watermark.silverchair.com watermark.silverchair.com
    3212.pdf
    1
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    watermark.silverchair.com/3212.pdf
  121. journals.lww.com journals.lww.com
    Glanzmann thrombasthenia detected because of knee... : Journal of Pediatric Orthopaedics B
    1
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    journals.lww.com/jpo-b/Pages/articleviewer.aspx
  122. watermark.silverchair.com watermark.silverchair.com
    1857.pdf
    1
    1. ClingenBaseline 26 Oct 2026
      A Point Mutation in the Integrin p3 Cytoplasmic Domain (S752 + P) Impairs Bidirectional Signaling Through aIIbP3 (Platelet Glycoprotein IIb-IIIa)

      PMID: 8080992

      Gene: ITGB3

      HGNC: 6138

      InsufficentEvidence: This article mentions a variant in ITGB3; however, the article does not mention a GT case report with the variant in detail, rather this paper cites another paper of a proband harboring the variant of interest

      ClinGen General ITGB3 HGNC:6138 inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    watermark.silverchair.com/1857.pdf
  123. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Double heterozygosity for a novel missense mutation of Ile304 to Asn in addition to the missense mutation His280 to Pro in the integrin β3 gene as a cause of the absence of platelet αIIbβ3 in Glanzmann's thrombasthenia
    1
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    onlinelibrary.wiley.com/doi/full/10.1111/j.1538-7836.2004.00990.x
  124. journals.sagepub.com journals.sagepub.com
    Glanzmann's Thrombasthenia Proposed Optimal Management During Surgery and Delivery
    1
    1. ClingenBaseline 26 Oct 2026
      Glanzmann'sThrombastheniaProposedOptimalManagementDuringSurgeryandDelivery

      PMID: 12812388

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This article mentions a 34 year old proband with GT; however, there is no mention of variants in ITGA2B and/or ITGB3 in the proband that is mentioned

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

    journals.sagepub.com/doi/pdf/10.1177/107602960300900213
  125. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Three novel β-propeller mutations causing Glanzmann thrombasthenia result in production of normally stable pro-αIIb, but variably impaired progression of pro-αIIbβ3 from endoplasmic reticulum to Golgi
    1
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    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC1569905/
  126. search.proquest.com search.proquest.com
    Successful surgery using recombinant factor VIIa for recurrent, idiopathic nonulcer duodenal bleeding in a patient with Glanzmann's thrombasthenia - ProQuest
    1
    1. ClingenBaseline 26 Oct 2026
      Successful surgery using recombinant factor VIIa for recurrent, idiopathic nonulcer duodenal bleeding in a patient with Glanzmann's thrombasthenia

      PMID: 12353868

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This mentions a Glanzmann thrombasthenia patient; however, no variants in ITGA2B and/or ITGB3 are mentioned in this patient; therefore, we have insufficient evidence

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

    search.proquest.com/docview/214344961
  127. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Spontaneous hemarthrosis in combined Glanzmann thrombasthenia and type 2N von Willebrand disease. - PubMed - NCBI
    1
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    ncbi.nlm.nih.gov/pubmed/24418945
  128. watermark.silverchair.com watermark.silverchair.com
    2-12-2179.pdf
    1
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    watermark.silverchair.com/2-12-2179.pdf
  129. www.tandfonline.com www.tandfonline.com
    Glanzmann's thrombasthenia in North Indians: Sub classification and carrier detection by flow cytometry
    1
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    tandfonline.com/doi/full/10.1080/09537100802434853
  130. ashpublications.org ashpublications.org
    A Leu262Pro mutation in the integrin β3 subunit results in an αIIb-β3 complex that binds fibrin but not fibrinogen
    1
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    ashpublications.org/blood/article/96/1/161/257783/A-Leu262Pro-mutation-in-the-integrin-3-subunit
  131. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Insertion of a C in the exon 28 of integrin αIIb gene leading to a frameshift mutation is responsible for Glanzmann thrombasthenia in a Japanese case
    1
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    onlinelibrary.wiley.com/doi/full/10.1111/j.1538-7836.2005.01160.x
  132. www.fertstert.org www.fertstert.org
    Endometriosis in two sisters with Glanzmann's thrombasthenia
    1
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    fertstert.org/article/S0015-0282(09)01417-4/fulltext
  133. 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
  134. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Thrombasthénie de Glanzmann et grossesse: à propos d'un cas et revue de la littérature
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC3290891/
  135. Local file Local file
    hae_2856 154..160
    1

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  136. Local file Local file
    REV_ISS_WEB_jop_1151_42-2 115..124
    1

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  137. pdfs.semanticscholar.org pdfs.semanticscholar.org
    2004_12 v6
    1
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    pdfs.semanticscholar.org/ea15/4e8bf3f924f2bd0cb0a3dcbfbfd647a2c102.pdf
  138. pdf.sciencedirectassets.com pdf.sciencedirectassets.com
    Glanzmann thrombasthenia: An update
    1
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    pdf.sciencedirectassets.com/271330/1-s2.0-S0009898109X00136/1-s2.0-S0009898109005439/main.pdf
  139. www.jisppd.com www.jisppd.com
    Hematological and surgical management in Glanzmann's thrombasthenia: A case report
    1
    1. ClingenBaseline 26 Oct 2026
      Hematological and surgical management in Glanzmann's thrombasthenia: A case report

      PMID: 24739923

      Gene: ITGA2B and/or ITGB3 (These genes may be involved since this patient has GT)

      HGNC: 6138 and 6156

      InsufficientEvidence: This article mentions a case report of an individual with Glanzmann thrombasthenia; however, there are no ITGA2B or ITGB3 variants in this proband

      ClinGen General InsufficientEvidence ITGA2B ITGB3 HGNC:6138 HGNC:6156 inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    jisppd.com/article.asp
  140. instructure-uploads.s3.amazonaws.com instructure-uploads.s3.amazonaws.com
    Revista 6-2 jul-dec 2007.p65
    1
    1. ClingenBaseline 26 Oct 2026
      Norethisterone therapy for bleeding due to gastrointestinaltelangiectases in Glanzmann’s thrombasthenia

      PMID: 9504647

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This mentions a Glanzmann thrombasthenia patient; however, no variants in ITGA2B and/or ITGB3 are mentioned in this patient; therefore, we have insufficient evidence

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 InsufficientEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    instructure-uploads.s3.amazonaws.com/account_32860000000000001/attachments/2737386/Inoki et al 2002.pdf
  141. pdfs.semanticscholar.org pdfs.semanticscholar.org
    45-1.pmd
    1
    1. ClingenBaseline 26 Oct 2026
      Pyelolithotomy in a patient with Glanzmann thrombasthenia andantiglycoprotein IIb/IIIa antibodies: the shortest possibleduration of treatment with recombinant activated factor VII andplatelet transfusions

      PMID: 12718376

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: Thus article mentions a Glanzmann thrombasthenia proband; however, no variants in ITGA2B and/or ITGB3 were reported in this patient

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 InsufficientEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    pdfs.semanticscholar.org/32b7/5f1634f42d615e8b0692aa59f2d7ce5fe46f.pdf
  142. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Role of RFLP using TspRI for carrier detection in Glanzmann’s thrombasthenia: a report on two families
    1
    1. ClingenBaseline 26 Oct 2026
      Role of RFLP using TspRI for carrier detection in Glanzmann’s thrombasthenia: a report on two families M. KANNAN Department of Hematology, All India Institute of Medical Sciences, New Delhi, IndiaSearch for more papers by this author B. K. YADAV Department of Hematology, All India Institute of Medical Sciences, New Delhi, IndiaSearch for more papers by this author F. AHMAD Department of Hematology, All India Institute of Medical Sciences, New Delhi, IndiaSearch for more papers by this author R. SAXENA Department of Hematology, All India Institute of Medical Sciences, New Delhi, IndiaSearch for more papers by this author

      PMID: 19170775

      Gene: ITGA2B

      HGNC: 6138

      ClinGen General ITGA2B HGNC:6138 inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
    Visit annotations in context

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    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/full/10.1111/j.1751-553X.2008.01126.x
  143. Local file Local file
    DDAVP-induced enhancement of platelet retention: Its dependence on platelet-von Willebrand Factor and the platelet receptor GP IIb/IIIa
    1
    1. ClingenBaseline 26 Oct 2026
      DDAVP-induced enhancement of platelet retention: Its dependence on platelet-von Willebrand Factor and the platelet receptor GP IIb/IIIa

      PMID: 1499698

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This mentions a Glanzmann thrombasthenia patient (29 years old); however, no variants in ITGA2B and/or ITGB3 are mentioned in this patient; therefore, we have insufficient evidence. The aim of the present study was to investigate the mechanism by which DDAVP induces increased platelet adhesiveness, as measured in a platelet retention test.

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

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  144. watermark.silverchair.com watermark.silverchair.com
    75.pdf
    1
    1. ClingenBaseline 26 Oct 2026
      Plat el et Vitro nec t in Receptor Exp res s ion Differentiates Iraqi - Jewi s h From Arab Patients With Glanzmann Thrombasthenia in Israel

      PMID: 1949709

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This article examined platelets of the Iraqi-Jewish and Arab Glanzmann thrombasthenia population; however, no specific proband information or variants in ITGA2B and/or ITGB3 were mentioned. This could be classified as "NoEvidence"; however, due to the fact the article mentioned two specific populations, I have noted it under "InsufficientEvidence"

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 InsufficientEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    watermark.silverchair.com/75.pdf
  145. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Deep Vein Thrombosis, Raynaud's Phenomenon, and Prinzmetal Angina in a Patient with Glanzmann Thrombasthenia
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC3549378/
  146. Local file Local file
    Presentation and pattern of symptoms in 382 patients with Glanzmann thrombasthenia in Iran
    1
    1. ClingenBaseline 26 Oct 2026
      Presentation and Pattern of Symptoms in 382 PatientsWith Glanzmann Thrombasthenia in Iran

      PMID: 15389911

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This article looks at the presentation and pattern of symptoms in 382 patients with GT. There are no variants associated with probands in ITGA2B and/or ITBG3

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

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  147. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Use of rFVIIa in 4 children with Glanzmann thrombasthenia. - PubMed - NCBI
    1
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    ncbi.nlm.nih.gov/pubmed/17023825
  148. www.jstage.jst.go.jp www.jstage.jst.go.jp
    en
    1
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    jstage.jst.go.jp/article/nmc/50/10/50_10_928/_pdf/-char/en
  149. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Founder effect and estimation of the age of the French Gypsy mutation associated with Glanzmann thrombasthenia in Manouche families
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC3179361/
  150. Local file Local file
    Acquired thrombasthenia due to GPIIbIIIa platelet autoantibodies in a 4-yr-old child
    1

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  151. Local file Local file
    Periodontal Management of Glanzmann's Thrombasthenia: Report of 3 CasesPeriodontal Management of Glanzmann's Thrombasthenia: Report of 3 Cases
    1
    1. ClingenBaseline 26 Oct 2026
      PeriodontalManagementofGlanzmann'sThrombasthenia:Reportof3Cases

      PMID: 8866321

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This mentions 3 Glanzmann thrombasthenia patient; however, no variants in ITGA2B and/or ITGB3 are mentioned in these individuals; therefore, we have insufficient evidence

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

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  152. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    A Glanzmann’s mutation in β3 integrin specifically impairs osteoclast function
    1
    1. ClingenBaseline 26 Oct 2026
      A Glanzmann’s mutation in β3 integrin specifically impairs osteoclast function

      PMID: 11342577

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This article mentions variants in ITGA2B/ITGB3; however, there is no mention of individual(s) with GT therefore we have insufficient evidence

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 InsufficientEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    ncbi.nlm.nih.gov/pmc/articles/PMC209281/
  153. reader.elsevier.com reader.elsevier.com
    Hematologically Important Mutations: Glanzmann Thrombasthenia
    1
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    reader.elsevier.com/reader/sd/pii/S1079979697901170
  154. Local file Local file
    untitled
    1

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  155. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Characterization of the cDNA and genomic DNA sequence encoding for the platelet integrin alpha IIB and beta III in a horse with Glanzmann thrombasthenia
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC3122970/
  156. europepmc.org europepmc.org
    Novel Mutations in the GPIIb and GPIIIa Genes in Glanzmann Thrombasthenia
    1
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    europepmc.org/article/MED/21113249
  157. link.springer.com link.springer.com
    Untitled document
    1
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    link.springer.com/content/pdf/10.1007/s12185-010-0731-5.pdf
  158. 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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  159. 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
  160. Local file Local file
    Dental Considerations for a Glanzmann's Thrombasthenia Patient: Case ReportDental Considerations for a Glanzmann's Thrombasthenia Patient: Case Report
    1
    1. ClingenBaseline 26 Oct 2026
      DentalConsiderationsforaGlanzmann'sThrombastheniaPatient:CaseReport

      PMID: 8724714

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This mentions a Glanzmann thrombasthenia patient; however, no variants in ITGA2B and/or ITGB3 are mentioned in this patient; therefore, we have insufficient evidence

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

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  161. 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
  162. Local file Local file
    Nurden_et_al-2002-British_Journal_of_Haematology.pdf
    1

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  163. 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
  164. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Congenital disorders associated with platelet dysfunctions. - PubMed - NCBI
    1
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    ncbi.nlm.nih.gov/pubmed/18278172
  165. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Hematuria: An uncommon presentation of Glanzmann's thrombasthenia—Lessons learnt
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC2878421/
  166. 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
  167. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Molecular yield of targeted sequencing for Glanzmann thrombasthenia patients
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC6375963/
  168. Local file Local file
    First description of an IgM monoclonal antibody causing αIIbβ3 integrin activation and acquired Glanzmann thrombasthenia associated with macrothrombocytopenia
    1
    1. ClingenBaseline 26 Oct 2026
      First description of an IgM monoclonal antibody causingaIIbb3integrin activation and acquired Glanzmannthrombasthenia associated with macrothrombocytopenia

      PMID: 30868743

      Gene: ITGA2B and ITGB3

      HGNC: 6138 and 6156, respectively as shown above

      InsufficientEvidence: Article discusses case report; however, no variants were reported in either ITGA2B or ITGB3 among sequencing analysis for proband.

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

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  169. watermark.silverchair.com watermark.silverchair.com
    977.pdf
    1
    1. ClingenBaseline 26 Oct 2026
      The Molecular Genetic Basis of Glanzmann’s Thrombasthenia in a Gypsy Population in France: Identification of a New Mutation on the &IIb Gene

      PMID: 7620188

      Gene: ITGA2B

      HGNC: 6138

      Note: Article mentions, under materials and methods, that the group being studied are two different families (I and II) belonging to the French gypsy community; however, in the results section the article focuses on patient V.17 from Family 1- therefore patient V.17 is annotated as the proband in this article

      ClinGen General ITGA2B HGNC:6138 inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    watermark.silverchair.com/977.pdf
  170. www.sciencedirect.com www.sciencedirect.com
    A novel approach using ancillary tests to guide treatment of Glanzmann thrombasthenia patients undergoing surgical procedures
    1
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    sciencedirect.com/science/article/pii/S107997961830247X
  171. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    F8 and F9 mutations in US haemophilia patients: correlation with history of inhibitor and race/ethnicity
    1
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    URL

    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/10.1111/j.1365-2516.2011.02700.x
  172. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Diagnostic importance of the two-stage factor VIII:C assay demonstrated by a case of mild haemophilia associated with His1954 → Leu substitution in the factor VIII A3 domain
    1
    1. ClingenBaseline 25 Oct 2026
      Diagnostic importance of the two-stage factor VIII:C assay demonstrated by a case of mild haemophilia associated with His1954 → Leu substitution in the factor VIII A3 domain D. M. Keeling, Oxford Haemophilia Centre, The Churchill Hospital, Oxford,Search for more papers by this authorK. Sukhu, Oxford Haemophilia Centre, The Churchill Hospital, Oxford,Search for more papers by this authorG. Kemball-Cook, Haemostasis Research Group, MRC Clinical Sciences Centre, Hammersmith Hospital, London,Search for more papers by this authorN. Waseem, Division of Medical and Molecular Genetics, Guy's and St Thomas's Medical School, London, U.K.,Search for more papers by this authorR. Bagnall, Division of Medical and Molecular Genetics, Guy's and St Thomas's Medical School, London, U.K.,Search for more papers by this authorJ. V. Lloyd, Haematology Division, Institute of Medical and Veterinary Science, Adelaide, AustraliaSearch for more papers by this author

      PMID: 10554831

      Gene: F8

      HGNCID: 3546

      General Gene:F8 HGNC:3546 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    Visit annotations in context

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    URL

    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/full/10.1046/j.1365-2141.1999.01460.x
  173. 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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    URL

    iopscience.iop.org/article/10.1088/1361-6528/ab40e9
  174. illiad.lib.unc.edu illiad.lib.unc.edu
    3072516.pdf
    1
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    illiad.lib.unc.edu/NOH/illiad.dll
  175. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    ssODN-Mediated In-Frame Deletion with CRISPR/Cas9 Restores FVIII Function in Hemophilia A-Patient-Derived iPSCs and ECs
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC6610636/
  176. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Direct comparison of two extended-half-life recombinant FVIII products: a randomized, crossover pharmacokinetic study in patients with severe hemophilia A
    1
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    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC6700041/
  177. illiad.lib.unc.edu illiad.lib.unc.edu
    BA002923 824..834
    1
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    illiad.lib.unc.edu/NOH/illiad.dll
  178. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Comprehensive analysis of phenotypes and genetics in 21 Chinese families with haemophilia B: characterization of five novel mutations
    1
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    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/pdf/10.1111/hae.12534
  179. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Assessment of the F9 genotype-specific FIX inhibitor risks and characterization of 10 novel severe F9 defects in the first molecular series of Argentine patients with haemophilia B
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC4220540/
  180. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Consequences of factor IX mutations in 26 families with haemophilia B
    1
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    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/full/10.1046/j.1365-2141.1998.00512.x
  181. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Analysis of the N-glycans of recombinant human Factor IX purified from transgenic pig milk
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC3306160/
  182. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    The Arg-4 mutant factor IX Strasbourg 2 shows a delayed activation by factor XIa
    1
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    pubmed.ncbi.nlm.nih.gov/8295821/
  183. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Missense mutations and evolutionary conservation of amino acids: evidence that many of the amino acids in factor IX function as "spacer" elements
    1
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    pubmed.ncbi.nlm.nih.gov/1680287/
  184. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Enhanced potency of recombinant factor VIIa with increased affinity to activated platelets
    1
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    onlinelibrary.wiley.com/doi/abs/10.1111/jth.14644
  185. 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/
  186. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    FIX mutation spectrum in haemophilia B patients from Jordan: identification of three novel mutations
    1
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    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/10.1111/j.1365-2516.2010.02365.x
  187. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Monitoring once-weekly recombinant factor IX prophylaxis in hemophilia B with thrombin generation assay and factor IX activity
    1
    1. ClingenBaseline 25 Oct 2026
      Monitoring once-weekly recombinant factor IX prophylaxis in hemophilia B with thrombin generation assay and factor IX activity V. Nummi, V. Nummi orcid.org/0000-0002-5134-7288 Faculty of Medicine, University of Helsinki, Helsinki, Finland Coagulation Disorders Unit, Department of Hematology and Comprehensive Cancer Center, Laboratory Services, Helsinki University Hospital, Helsinki, FinlandSearch for more papers by this authorA. Jouppila, A. Jouppila Helsinki University Hospital Research Institute, Helsinki, FinlandSearch for more papers by this authorR. Lassila, Corresponding Author R. Lassila riitta.lassila@hus.fi Faculty of Medicine, University of Helsinki, Helsinki, Finland Coagulation Disorders Unit, Department of Hematology and Comprehensive Cancer Center, Laboratory Services, Helsinki University Hospital, Helsinki, Finland Correspondence: Riitta Lassila, Coagulation Disorders Unit, Department of Hematology and Comprehensive Cancer Center, Laboratory Services, Helsinki University Hospital, P.O. Box 372, 00029 HUS, Helsinki, Finland. Tel.: +358 40 517 5547; Fax: +358 9 471 74504; E-mail: riitta.lassila@hus.fiSearch for more papers by this author

      PMID: 28406575

      Gene: F9

      HGNC: 3551

      General Gene:F9 inferred_gene_hgnc:3551 inferred_gene_source:Gene_Name ClinGen Coag Fac Def VCEP
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    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/10.1111/ijlh.12634
  188. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Clinical Problem Solving and Using New Paths in the Laboratory: Learning from Case Studies
    1
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    pubmed.ncbi.nlm.nih.gov/32820490/
  189. www.proquest.com www.proquest.com
    Factor IX mutations in Haemophilia B patients in Malaysia: a preliminary study - ProQuest
    1
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    proquest.com/docview/1030094611
  190. 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/
  191. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    blt-16-392.pdf
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC6034774/
  192. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Characterization of genetic defects of hemophilia B of Chinese origin
    1
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    pubmed.ncbi.nlm.nih.gov/1796396/
  193. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    An intronic mutation c.6430-3C>G in the F8 gene causes splicing efficiency and premature termination in hemophilia A
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC5965921/
  194. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    The CDC Hemophilia B mutation project mutation list: a new online resource
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC3865591/
  195. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Mutation detection and inhibitor risk in Iranian patients with Hemophilia A: Six novel mutations
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC7752620/
  196. pdf.sciencedirectassets.com pdf.sciencedirectassets.com
    Usual and unusual mutations in a cohort of Belgian patients with hemophilia B
    1
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    pdf.sciencedirectassets.com/271043/1-s2.0-S0049384816X00163/1-s2.0-S0049384816306181/main.pdf
  197. 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
  198. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Genotype-phenotype correlation in British families with X linked congenital stationary night blindness
    1
    1. ClingenBaseline 25 Oct 2026
      Genotype-phenotype correlation in British families with X linked congenital stationary night blindness

      PMID: 14609846

      Gene: NYX

      HGNC: 8082

      Disease: Congenital stationary night blindness 1A

      MONDO: 0010690

      InheritancePattern: X-linked recessive

      Prevalence: Congenital stationary night blindness has an estimated prevalence between 1 in 6,000 (PMID: 31427709) and 1 in 300,000 (PMID: 3487908). However, the prevalence of congenital stationary night blindness 1A specifically is unknown.

      Penetrance: Penetrance is thought to be complete.

      General ClinGen Gene:NYX HGNC:8082 inferred_gene_hgnc:8082 inferred_gene_source:hgnc_tag Retina GCEP
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    ncbi.nlm.nih.gov/pmc/articles/PMC1771890/
  199. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    A novel GPR143 duplication mutation in a Chinese family with X-linked congenital nystagmus
    1
    1. ClingenBaseline 25 Oct 2026
      A novel GPR143 duplication mutation in a Chinese family with X-linked congenital nystagmus

      PMID: 19390656

      Gene: GPR143

      HGNC: 20145

      Disease: X-linked recessive ocular albinism

      MONDO: 0021019

      InheritancePattern: X-linked recessive

      Prevalence: Ocular albinism has an estimated prevalence between 1 in 111,000 and 1 in 1,000,000 live births (PMID: 35495622)

      Penetrance: Fully penetrant in males, with onset in infancy. Most female carriers appear to be unaffected.

      General ClinGen Gene:GPR143 HGNC:20145 inferred_gene_hgnc:20145 inferred_gene_source:hgnc_tag Retina GCEP
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    ncbi.nlm.nih.gov/pmc/articles/PMC2671585/
  200. iovs.arvojournals.org iovs.arvojournals.org
    Unique Variants in OPN1LW Cause Both Syndromic and Nonsyndromic X-Linked High Myopia Mapped to MYP1
    1
    1. ClingenBaseline 25 Oct 2026
      Unique Variants in OPN1LW Cause Both Syndromic and Nonsyndromic X-Linked High Myopia Mapped to MYP1

      PMID: 26114493

      Gene: OPN1LW

      HGNC: 9936

      Disease: protan color blindness

      MONDO: 0010565

      InheritancePattern: X-linked

      Prevalence: The overall prevalence of protan color blindness is approximately 1% in males, which is higher than that of blue cone monochromacy (~1 in 100,000, PMID: 35759666).

      Penetrance: Known disease-causing alleles appear to be almost completely penetrant in males (PMID: 21167193).

      General ClinGen Gene:OPN1LW HGNC:9936 inferred_gene_hgnc:9936 inferred_gene_source:hgnc_tag Retina GCEP
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    iovs.arvojournals.org/article.aspx
  201. iovs.arvojournals.org iovs.arvojournals.org
    Identification of Novel RPGR ORF15 Mutations in X-linked Progressive Cone-Rod Dystrophy (XLCORD) Families
    1
    1. ClingenBaseline 25 Oct 2026
      Identification of Novel RPGR ORF15 Mutations in X-linked Progressive Cone-Rod Dystrophy (XLCORD) Families

      PMID: 15914600

      Gene: RPGR

      HGNC: 10295

      Disease: RPGR-related retinopathy

      MONDO: MONDO:0100437

      InheritancePattern: X-linked

      Prevalence: The prevalence of RPGR-related retinopathy is calculated to be approximately 1 in 214,000, based on the known incidence of retinitis pigmentosa at 1 in 3,000, the proportion of retinitis pigmentposa that is X-linked at 20%, and the proportion of X-linked retinitis pigmentosa that is RPGR-associated at 70% (PMID: 34985506).

      Penetrance: Penetrance is nearly 100% in hemizygous males but is incomplete and dependent upon the variant in heterozygous female carriers.

      General ClinGen Gene:RPGR HGNC:10295 inferred_gene_hgnc:10295 inferred_gene_source:hgnc_tag Retina GCEP
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    iovs.arvojournals.org/article.aspx
  202. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Heterozygous 'null allele' mutation in the human peripherin/RDS gene
    1
    1. ClingenBaseline 25 Oct 2026
      Heterozygous 'null allele' mutation in the human peripherin/RDS gene

      PMID: 8111389

      Gene: PRPH2

      HGNC: 9942

      Disease: retinitis pigmentosa 7

      MONDO: 0011974

      InheritancePattern: semi-dominant

      Prevalence: The incidence of PRPH2-related cases among inherited retinal dystrophies is reported to range from 3.5% in North America to 10.3% in France (PMID: 36010202).

      Penetrance: The penetrance among biallelic cases appears to be complete, while the monoallelic cases exhibit incomplete penetrance (PMID: 36609934).

      General ClinGen Gene:PRPH2 HGNC:9942 inferred_gene_hgnc:9942 inferred_gene_source:hgnc_tag Retina GCEP
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    pubmed.ncbi.nlm.nih.gov/8111389/