1,614 Matching Annotations
  1. Last 7 days
  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa
    1
    1. ClingenBaseline 23 Oct 2026
      A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa

      PMID: 1749427

      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
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/1749427/
  3. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Identification of Compound Heterozygous Mutations in the BBS7 Gene in a Korean Family with Bardet-Biedl Syndrome
    1
    1. ClingenBaseline 23 Oct 2026
      Identification of Compound Heterozygous Mutations in the BBS7 Gene in a Korean Family with Bardet-Biedl Syndrome

      PMID: 25553308

      Gene: BBS7

      HGNC: 18758

      Disease: Bardet-Biedl syndrome 7

      MONDO: 0014435

      InheritancePattern: autosomal recessive

      Prevalence: The prevalence of BBS7 variants among Bardet-Biedl syndrome cohorts has been reported at 4.2% (PMID: 19402160), while the prevalence of Bardet-Biedl syndrome overall has been estimated between 1 in 13,500 and 1 in 160,000 live births, depending on the population (PMID: 22713813).

      Penetrance: The penetrance of the phenotype among homozygous cases appears to be complete.

      General ClinGen Gene:BBS7 HGNC:18758 inferred_gene_hgnc:18758 inferred_gene_source:hgnc_tag Retina GCEP
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC4272959/
  4. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Analysis of Retinol Binding Protein 4 and ABCA4 Gene Variation in Non-Neovascular Age-Related Macular Degeneration
    1
    1. ClingenBaseline 23 Oct 2026
      Analysis of Retinol Binding Protein 4 and ABCA4 Gene Variation in Non-Neovascular Age-Related Macular Degeneration

      PMID: 37510153

      Gene: ABCA4

      HGNC: 34

      Disease: age related macular degeneration 2

      MONDO: 0007932

      InheritancePattern: autosomal dominant

      Prevalence: The overall prevalence of age-related macular degeneration is estimated to be 9.9-19.5% (early-stage) or 1.1-3.9% (late-stage) among all people over age 50 years (PMID: 31712255).

      Penetrance: The penetrance of proposed disease-causing alleles is not clear but is expected to be incomplete and age-dependent.

      General ClinGen Gene:ABCA4 HGNC:34 inferred_gene_hgnc:34 inferred_gene_source:hgnc_tag Retina GCEP
    Visit annotations in context

    Tags

    Annotators

    URL

    pmc.ncbi.nlm.nih.gov/articles/PMC10378304/
  5. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Novel ADAM9 homozygous mutation in a consanguineous Egyptian family with severe cone-rod dystrophy and cataract
    1
    1. ClingenBaseline 23 Oct 2026
      Novel ADAM9 homozygous mutation in a consanguineous Egyptian family with severe cone-rod dystrophy and cataract

      PMID: 25091951

      Gene: ADAM9

      HGNC: 216

      Disease: cone-rod dystrophy 9

      MONDO: MONDO:0013002

      InheritancePattern: autosomal recessive

      Prevalence: The prevalence of cone-rod dystrophy in general is estimated to be 1 in 40,000 (PMID: 17270046), however, the specific prevalence of cone-rod dystrophy 9 is unknown.

      Penetrance: Penetrance appears to be complete in reported families, but it is possible that incomplete penetrance may be associated with some variants.

      General ClinGen Gene:ADAM9 HGNC:216 inferred_gene_hgnc:216 inferred_gene_source:hgnc_tag Retina GCEP
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/25091951/
  6. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Expanded Retinal Disease Spectrum Associated With Autosomal Recessive Mutations in GUCY2D
    1
    1. ClingenBaseline 23 Oct 2026
      Expanded Retinal Disease Spectrum Associated With Autosomal Recessive Mutations in GUCY2D

      PMID: 29559409

      Gene: GUCY2D

      HGNC: 4689

      Disease: Leber congenital amaurosis 1

      MONDO: 0008764

      InheritancePattern: Autosomal Recessive

      Prevalence: The overall prevalence of Leber congenital amaurosis is between 1 in 33,000 and 1 in 100,000 newborns, while the proportion of Leber congenital amaurosis caused by GUCY2D variants is between 10% and 20% (PMID: 10951519). Thus, the prevalence of Leber congenital amaurosis 1 is between 1 in 165,000 and 1 in 1,000,000.

      Penetrance: Fully penetrant, with onset in neonates or in infancy

      General ClinGen Gene:GUCY2D HGNC:4689 inferred_gene_hgnc:4689 inferred_gene_source:hgnc_tag Retina GCEP
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/29559409/
  7. jasn.asnjournals.org jasn.asnjournals.org
    Disruption of IFT Complex A Causes Cystic Kidneys without Mitotic Spindle Misorientation
    1
    1. ClingenBaseline 23 Oct 2026
      Disruption of IFT Complex A Causes Cystic Kidneys without Mitotic Spindle Misorientation

      PMID: 22282595

      Gene: IFT140

      HGNC: 29077

      Disease: polycystic kidney disease

      MONDO: 0020642

      InheritancePattern: autosomal dominant

      Prevalence: The overall prevalence of polycystic kidney disease is between 1 in 400 and 1 in 1,000 individuals (PMID: 30523303).

      Penetrance: Disease caused by monoallelic IFT140 variants is incompletely penetrant.

      General ClinGen Gene:IFT140 HGNC:29077 inferred_gene_hgnc:29077 inferred_gene_source:hgnc_tag Retina GCEP
    Visit annotations in context

    Tags

    Annotators

    URL

    jasn.asnjournals.org/content/23/4/641
  8. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    VWF collagen (types III and VI)‐binding defects in a cohort of type 2M VWD patients – a strategy for improvement of a challenging diagnosis
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/full/10.1111/hae.13156
  9. 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
    Visit annotations in context

    Tags

    Annotators

    URL

    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/full/10.1111/ijlh.12622
  10. ashpublications.org ashpublications.org
    Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders
    1
    1. ClingenBaseline 23 Oct 2026
      Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders

      PMID: 31064749

      Gene: VWF

      HGNC: 12726

      Disease: von Willebrand Disease Type 2

      MONDO: 0013304

      InheritancePattern: Autosomal Dominant (for Types 2A, 2B and 2M) or Autosomal Recessive (for Type 2N)

      Prevalence: Overall VWD prevalence is estimated to be as high as 1 in 100 in the general population, with 1 in 10,000 pursuing tertiary care referral ((PMID: 28847738).

      Penetrance: Fully penetrant / nearly fully penetrant for most pathogenic variants

      General ClinGen Gene:VWF HGNC:12726 inferred_gene_hgnc:12726 inferred_gene_source:hgnc_tag ClinGen VWF
    Visit annotations in context

    Tags

    Annotators

    URL

    ashpublications.org/blood/article/134/23/2082/374932/Diagnostic-high-throughput-sequencing-of-2396
  11. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Diagnosis and Treatment of von Willebrand Disease and Rare Bleeding Disorders
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC5406777/
  12. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Search for mutations in a segment of the exon 28 of the human von Willebrand factor gene: New mutations, R1315C and R1341W, associated with type 2M and 2B variants
    1
    1. ClingenBaseline 23 Oct 2026
      Search for mutations in a segment of the exon 28 of the human von Willebrand factor gene: New mutations, R1315C and R1341W, associated with type 2M and 2B variants

      PMID: 9723578

      Gene: VWF

      HGNC: 12726

      Disease: von Willebrand disease type 2B

      MONDO: 0015629

      InheritancePattern: Autosomal Dominant

      Prevalence: Overall VWD prevalence is estimated to be as high as 1 in 100 in the general population, with 1 in 10,000 pursuing tertiary care referral ((PMID: 28847738).

      Penetrance: Fully penetrant / nearly fully penetrant for most pathogenic type 2 variants

      General ClinGen Gene:VWF HGNC:12726 inferred_gene_hgnc:12726 inferred_gene_source:hgnc_tag ClinGen VWF
    Visit annotations in context

    Tags

    Annotators

    URL

    onlinelibrary.wiley.com/doi/abs/10.1002/(SICI)1096-8652(199809)59:1<57::AID-AJH11>3.0.CO
  13. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Diagnostic challenges in von Willebrand disease. Report of two cases with emphasis on multimeric and molecular analysis
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/32664776/
  14. web-p-ebscohost-com.libproxy.lib.unc.edu web-p-ebscohost-com.libproxy.lib.unc.edu
    Type‐3 von Willebrand disease in India—Clinical spectrum and molecular prof...: EBSCOhost
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    web-p-ebscohost-com.libproxy.lib.unc.edu/ehost/detail/detail
  15. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Management of pregnancy in type 2B von Willebrand disease: case report and literature review
    1
    1. ClingenBaseline 23 Oct 2026
      Management of pregnancy in type 2B von Willebrand disease: case report and literature review

      PMID: 25431025

      Gene: VWF

      HGNC: 12726

      Disease: von Willebrand disease type 2B

      MONDO: 0015629

      InheritancePattern: Autosomal Dominant

      Prevalence: Overall VWD prevalence is estimated to be as high as 1 in 100 in the general population, with 1 in 10,000 pursuing tertiary care referral ((PMID: 28847738).

      Penetrance: Fully penetrant / nearly fully penetrant for most pathogenic type 2 variants

      General ClinGen Gene:VWF HGNC:12726 inferred_gene_hgnc:12726 inferred_gene_source:hgnc_tag ClinGen VWF
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/25431025/
  16. www.sciencedirect.com www.sciencedirect.com
    Type 2M von Willebrand Disease: F606I and I662F Mutations in the Glycoprotein Ib Binding Domain Selectively Impair Ristocetin- but not Botrocetin-Mediated Binding of von Willebrand Factor to Platelets
    1
    1. ClingenBaseline 23 Oct 2026
      Type 2M von Willebrand Disease: F606I and I662F Mutations in the Glycoprotein Ib Binding Domain Selectively Impair Ristocetin- but not Botrocetin-Mediated Binding of von Willebrand Factor to Platelets

      PMID: 9473222

      Gene: VWF

      HGNC: 12726

      Disease: von Willebrand disease type 2M

      MONDO: 0015630

      InheritancePattern: Autosomal Dominant

      Prevalence: Overall VWD prevalence is estimated to be as high as 1 in 100 in the general population, with 1 in 10,000 pursuing tertiary care referral (PMID: 28847738).

      Penetrance: Fully penetrant / nearly fully penetrant for most pathogenic type 2 variants

      General ClinGen Gene:VWF HGNC:12726 inferred_gene_hgnc:12726 inferred_gene_source:hgnc_tag ClinGen VWF
    Visit annotations in context

    Tags

    Annotators

    URL

    sciencedirect.com/science/article/pii/S0006497120571334
  17. 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
    Visit annotations in context

    Tags

    Annotators

    URL

    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/full/10.1111/hae.13175
  18. ashpublications.org ashpublications.org
    VWF mutations and new sequence variations identified in healthy controls are more frequent in the African-American population
    1
    1. ClingenBaseline 23 Oct 2026
      VWF mutations and new sequence variations identified in healthy controls are more frequent in the African-American population

      PMID: 22197721

      Gene: VWF

      HGNC: 12726

      Disease: von Willebrand Disease Type 2N

      MONDO: 0015631

      InheritancePattern: Autosomal Recessive

      Prevalence: Various sources (PMID: 28847738, PMID:19809303, PMID:29115006) can be combined to estimate the prevalence of VWD Type 2N between 1:15,000 and 1:80,000.

      Penetrance: VWD type 2 is fully penetrant / nearly fully penetrant for most pathogenic variants.

      General ClinGen Gene:VWF HGNC:12726 inferred_gene_hgnc:12726 inferred_gene_source:hgnc_tag ClinGen VWF
    Visit annotations in context

    Tags

    Annotators

    URL

    ashpublications.org/blood/article/119/9/2135/30242/VWF-mutations-and-new-sequence-variations
  19. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Differential effects of the loss of intrachain- versus interchain-disulfide bonds in the cystine-knot domain of von Willebrand factor on the clinical phenotype of von Willebrand disease
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/17139364/
  20. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Compromised Shear-Dependent Cleavage of Type 2N von Willebrand Factor Variants by ADAMTS13 in the Presence of Factor VIII
    1
    1. ClingenBaseline 23 Oct 2026
      Compromised Shear-Dependent Cleavage of Type 2N von Willebrand Factor Variants by ADAMTS13 in the Presence of Factor VIII

      PMID: 23636243

      Gene: VWF

      HGNC: 12726

      Disease: von Willebrand Disease Type 2N

      MONDO: 0015631

      InheritancePattern: Autosomal Recessive

      Prevalence: Various sources (PMID: 28847738, PMID:19809303, PMID:29115006) can be combined to estimate the prevalence of VWD Type 2N between 1:15,000 and 1:80,000.

      Penetrance: VWD type 2 is fully penetrant / nearly fully penetrant for most pathogenic variants.

      General ClinGen Gene:VWF HGNC:12726 inferred_gene_hgnc:12726 inferred_gene_source:hgnc_tag ClinGen VWF
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC3813456/
  21. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Type-3 von Willebrand disease in India—Clinical spectrum and molecular profile
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/29984440/
  22. onlinelibrary.wiley.com onlinelibrary.wiley.com
    First report of inhibitory von Willebrand factor alloantibodies in type 2B von Willebrand disease
    1
    1. ClingenBaseline 23 Oct 2026
      First report of inhibitory von Willebrand factor alloantibodies in type 2B von Willebrand disease

      PMID: 25851809

      Gene: VWF

      HGNC: 12726

      Disease: von Willebrand disease type 2B

      MONDO: 0015629

      InheritancePattern: Autosomal Dominant

      Prevalence: Overall VWD prevalence is estimated to be as high as 1 in 100 in the general population, with 1 in 10,000 pursuing tertiary care referral ((PMID: 28847738).

      Penetrance: Fully penetrant / nearly fully penetrant for most pathogenic type 2 variants

      General ClinGen Gene:VWF HGNC:12726 inferred_gene_hgnc:12726 inferred_gene_source:hgnc_tag ClinGen VWF
    Visit annotations in context

    Tags

    Annotators

    URL

    onlinelibrary.wiley.com/doi/full/10.1111/bjh.13395
  23. 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
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC5615278/
  24. 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
    Visit annotations in context

    Tags

    Annotators

    URL

    onlinelibrary.wiley.com/doi/full/10.1111/jth.13753
  25. 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
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC5419181/
  26. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Prevalence and characterization of anti-VWF antibodies in a population of patients with type 3 VWD
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    pmc.ncbi.nlm.nih.gov/articles/PMC11459903/pdf/main.pdf
  27. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Thrombocytopenia Pitfalls: Misdiagnosing Type 2B von Willebrand Disease as Ethylenediaminetetraacetic Acid−Dependent Pseudothrombocytopenia
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/27215777/
  28. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    The agglutination of human platelets by botrocetin: evidence that botrocetin and ristocetin act at different sites on the factor VIII molecule and platelet membrane
    1
    1. ClingenBaseline 23 Oct 2026
      The agglutination of human platelets by botrocetin: evidence that botrocetin and ristocetin act at different sites on the factor VIII molecule and platelet membrane

      PMID: 6426499

      Gene: VWF

      HGNC: 12726

      Disease: von Willebrand disease type 2M

      MONDO: 0015630

      InheritancePattern: Autosomal Dominant

      Prevalence: Overall VWD prevalence is estimated to be as high as 1 in 100 in the general population, with 1 in 10,000 pursuing tertiary care referral ((PMID: 28847738).

      Penetrance: Fully penetrant / nearly fully penetrant for most pathogenic type 2 variants

      General ClinGen Gene:VWF HGNC:12726 inferred_gene_hgnc:12726 inferred_gene_source:hgnc_tag ClinGen VWF
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/6426499/
  29. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    A rare case of type 2A von Willebrand disease with compound heterozygous mutation
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    pmc.ncbi.nlm.nih.gov/articles/PMC12141377/
  30. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Comparison of an automated chemiluminescent assay to a manual ELISA assay for determination of von Willebrand Factor collagen binding activity on VWD plasma patients previously diagnosed through molecular analysis of VWF
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    onlinelibrary.wiley.com/doi/full/10.1111/ijlh.12743
  31. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Angiodysplasia in von Willebrand disease: Understanding the clinical and basic science
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC5949878/
  32. 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
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC6034771/
  33. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Discrepant platelet and plasma von Willebrand factor (VWF) in von Willebrand disease (VWD) patients with p.Pro2808Leufs*24: Discrepant platelet and plasma VWF
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC5949882/
  34. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Type 2B von Willebrand Disease Associated With the Release of Platelet Agglutinates From Megakaryocytes in the Bone Marrow
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    pmc.ncbi.nlm.nih.gov/articles/PMC5592795/
  35. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    The genetic basis of von Willebrand disease
    1
    1. ClingenBaseline 23 Oct 2026
      The genetic basis of von Willebrand disease

      PMID: 20409624

      Gene: VWF

      HGNC: 12726

      Disease: von Willebrand disease type 2B

      MONDO: 0015629

      InheritancePattern: Autosomal Dominant

      Prevalence: Overall VWD prevalence is estimated to be as high as 1 in 100 in the general population, with 1 in 10,000 pursuing tertiary care referral ((PMID: 28847738).

      Penetrance: Fully penetrant / nearly fully penetrant for most pathogenic type 2 variants

      General ClinGen Gene:VWF HGNC:12726 inferred_gene_hgnc:12726 inferred_gene_source:hgnc_tag ClinGen VWF
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/20409624/
  36. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Germline de novo mutations and linkage markers vs. DNA sequencing for carrier detection in von Willebrand disease
    1
    1. ClingenBaseline 23 Oct 2026
      Germline de novo mutations and linkage markers vs. DNA sequencing for carrier detection in von Willebrand disease F. Ahmad,  Corresponding Author F. Ahmad Department of Haematology, All India Institute of Medical Sciences (AIIMS), New Delhi, India Center for Translational Medicine, School of Medicine Temple University, Philadelphia, PA, USA Correspondence: Firdos Ahmad, PhD, Center for Translational Medicine, School of Medicine Temple University, 3500 N Broad Street, Philadelphia, PA 19140, USA. Tel.: +1 215 707 6518; fax: +1 215 707 9820; e-mail: firdos.ahmad@temple.edu Renu Saxena, MD, Professor and Head, Department of Hematology, All India Institute of Medical Sciences, New Delhi, India 110029. Tel: +91-11-2659 4670 Fax: +91-11-2658 8663 e-mail: renusaxena@outlook.comSearch for more papers by this authorF. Oyen,  F. Oyen Department of Pediatric Haematology Oncology, University Medical Centre Hamburg Eppendorf, Hamburg, GermanySearch for more papers by this authorR. Jan,  R. Jan Department of Haematology, All India Institute of Medical Sciences (AIIMS), New Delhi, IndiaSearch for more papers by this authorU. Budde,  U. Budde Hämostaseology, Medilys Laborgesellschaft mbH, Hamburg, GermanySearch for more papers by this authorR. Schneppenheim,  R. Schneppenheim Department of Pediatric Haematology Oncology, University Medical Centre Hamburg Eppendorf, Hamburg, GermanySearch for more papers by this authorR. Saxena,  Corresponding Author R. Saxena Department of Haematology, All India Institute of Medical Sciences (AIIMS), New Delhi, India Correspondence: Firdos Ahmad, PhD, Center for Translational Medicine, School of Medicine Temple University, 3500 N Broad Street, Philadelphia, PA 19140, USA. Tel.: +1 215 707 6518; fax: +1 215 707 9820; e-mail: firdos.ahmad@temple.edu Renu Saxena, MD, Professor and Head, Department of Hematology, All India Institute of Medical Sciences, New Delhi, India 110029. Tel: +91-11-2659 4670 Fax: +91-11-2658 8663 e-mail: renusaxena@outlook.comSearch for more papers by this author

      PMID: 24712919

      Gene: VWF

      HGNCID: 12726

      Note: abnormal multimers found in patient with p.I1628T variant

      ClinGen General Gene:VWF ExperimentalAssay inferred_gene_hgnc:12726 inferred_gene_source:HGNC_body ClinGen VWF
    Visit annotations in context

    Tags

    Annotators

    URL

    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/full/10.1111/hae.12441
  37. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Differential diagnosis of neonatal alloimmune thrombocytopenia: Type 2B von Willebrand disease
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/28436749/
  38. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    A novel ACTC1 mutation in a young boy with left ventricular noncompaction and arrhythmias
    5
    Visit annotations in context

    Tags

    Annotators

    URL

    pmc.ncbi.nlm.nih.gov/articles/PMC5412645/
  39. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    [The role of three-dimensional speckle tracking imaging derived parameters on predicting outcome of hypertrophic cardiomyopathy patients with MYH7 mutations]
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/32370479/
  40. www-sciencedirect-com.libproxy.lib.unc.edu www-sciencedirect-com.libproxy.lib.unc.edu
    A novel MYH7 mutation with prominent paraspinal and proximal muscle involvement
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    www-sciencedirect-com.libproxy.lib.unc.edu/science/article/pii/S0960896613001193
  41. link.springer.com link.springer.com
    Effects of renal sympathetic denervation and angiotensin-converting enzyme inhibitor on left ventricular hypertrophy
    1
    1. ClingenBaseline 23 Oct 2026
      Effects of renal sympathetic denervation and angiotensin-converting enzyme inhibitor on left ventricular hypertrophy

      PMID: 24924395

      Gene: MYH7

      "RSD had a significant antihypertensive effect and inhibited hypertensive-induced cardiac hypertrophy in SHRs and showed advantages compared with ACEI in decreasing BP in the early stage and in inhibiting myocardial fibrosis"

      InsufficentEvidence General MYH7 inferred_gene_hgnc:7577 inferred_gene_source:Gene_Name Cardiomyopathy Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    link.springer.com/article/10.1007/s00059-014-4110-5
  42. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    JMJD1A Represses the Development of Cardiomyocyte Hypertrophy by Regulating the Expression of Catalase
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC7243027/
  43. heart-bmj-com.libproxy.lib.unc.edu heart-bmj-com.libproxy.lib.unc.edu
    A systematic review and meta-analysis of genotype–phenotype associations in patients with hypertrophic cardiomyopathy caused by sarcomeric protein mutations
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    heart-bmj-com.libproxy.lib.unc.edu/content/99/24/1800
  44. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Hypertrophic Cardiomyopathy Overview
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/20301725/
  45. www.jstage.jst.go.jp www.jstage.jst.go.jp
    Lifelong Clinical Impact of the Presence of Sarcomere Gene Mutation in Japanese Patients With Hypertrophic Cardiomyopathy
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    jstage.jst.go.jp/article/circj/advpub/0/advpub_CJ-20-0027/_html/-char/en
  46. www.sciencedirect.com www.sciencedirect.com
    FBXW7 promotes pathological cardiac hypertrophy by targeting EZH2-SIX1 signaling
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    sciencedirect.com/science/article/pii/S0014482720302913
  47. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Analysis of Contractile Function of Permeabilized Human Hypertrophic Cardiomyopathy Multicellular Heart Tissue
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC6447666/
  48. www-sciencedirect-com.libproxy.lib.unc.edu www-sciencedirect-com.libproxy.lib.unc.edu
    Mutation Spectrum in a Large Cohort of Unrelated Chinese Patients With Hypertrophic Cardiomyopathy
    1
    1. ClingenBaseline 23 Oct 2026
      Mutation Spectrum in a Large Cohort of Unrelated Chinese Patients With Hypertrophic Cardiomyopathy

      PMID: 23711808

      Gene: MYH7

      HGNC: 7577

      Direct gene sequencing of β-myosin heavy chain (MYH7), myosin binding protein-C (MYBPC3), and cardiac troponin T (TNNT2) was performed in 136 unrelated Chinese HC patients. Clinical evaluations were conducted. In total, 32 mutations were identified in 36 patients (27%), including 10 novel ones. Distribution of mutations was 56% (MYBPC3), 31% (MYH7), and 13% (TNNT2), respectively. Double mutations were identified in 3% patients.

      HGNC:7577 MYH7 General inferred_gene_hgnc:7577 inferred_gene_source:hgnc_tag Cardiomyopathy Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    www-sciencedirect-com.libproxy.lib.unc.edu/science/article/pii/S0002914913009958
  49. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Transgenic Mouse α- and β-Cardiac Myosins Containing the R403Q Mutation Show Isoform-dependent Transient Kinetic Differences
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC3663502/
  50. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Digenic mutational inheritance of the integrin alpha 7 and the myosin heavy chain 7B genes causes congenital myopathy with left ventricular non-compact cardiomyopathy
    1
    1. ClingenBaseline 23 Oct 2026
      Digenic mutational inheritance of the integrin alpha 7 and the myosin heavy chain 7B genes causes congenital myopathy with left ventricular non-compact cardiomyopathy

      PMID: 23800289

      Gene: MYH7

      HGNC: 7577

      "This is the first indication that a mutation in the MYH7B gene causes LVNC cardiomyopathy. We demonstrated that the arginine at position 890 of the MYH7B gene is highly conserved in all species; this region is also conserved in the MYH7 gene, which, when mutated, causes LVNC. These data further support the concept that sarcomere genes are associated with LVNC."

      General HGNC:7577 MYH7 InsufficentEvidence inferred_gene_hgnc:7577 inferred_gene_source:hgnc_tag Cardiomyopathy Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC3695851/
  51. link-springer-com.libproxy.lib.unc.edu link-springer-com.libproxy.lib.unc.edu
    Longitudinal metabolic profiling of cardiomyocytes derived from human-induced pluripotent stem cells
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    link-springer-com.libproxy.lib.unc.edu/article/10.1007/s00395-020-0796-0
  52. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Attenuation of Cardiomyocyte Hypertrophy via Depletion Myh7 using CASAAV
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/33098074/
  53. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Somatic MYH7, MYBPC3, TPM1, TNNT2 and TNNI3 mutations in sporadic hypertrophic cardiomyopathy
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/23782526/
  54. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Family screening of hypertrophic cardiomyopathy in children: a case report
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    pmc.ncbi.nlm.nih.gov/articles/PMC9477208/
  55. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    A Novel Arginine to Tryptophan (R144W) Mutation in Troponin T (cTnT) Gene in an Indian Multigenerational Family with Dilated Cardiomyopathy (FDCM)
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    pmc.ncbi.nlm.nih.gov/articles/PMC4081629/
  56. 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
    Visit annotations in context

    Tags

    Annotators

    URL

    pmc.ncbi.nlm.nih.gov/articles/PMC3158811/
  57. www-nature-com.libproxy.lib.unc.edu www-nature-com.libproxy.lib.unc.edu
    Newborn screening for Pompe disease in Japan: report and literature review of mutations in the GAA gene in Japanese and Asian patients
    1
    1. ClingenBaseline 23 Oct 2026
      87

      Case#: 87, Gender N/A, 6 months old when diagnosed, Asian

      DiseaseAssertion:Pompe disease

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText:N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: The patient did not present any symptoms, diagnosed was made based on the predicted impact of the variant by PolyPhen-2

      CasePreviousTesting: The GAA gene was sequenced using NGS and resequenced for confirmation using Sanger.

      Dried Blood spot test found an GAA activity of 4.6 pmol/h/disk with a reference value of 6.5 pmol/h/disk

      enzyme activity in fibroblast was recorded to be 5.4 nmol/h/mg protein.

      Variants: Variant1: (Two mutated alleles with heterozygous mutations)

      Variant1.1: NM_000152.5(GAA):c.752C>T (p.Ser251Leu)

      ClinVar: 346310

      CAID: CA8815007

      gnomAD: Highest population MAF = 0.002234 (East Asian)

      Variant1.2: NM_000152.5(GAA):c.761C>T (p.Ser254Leu)

      ClinVar: 330447

      CAID: CA8815009

      gnomAD: Highest popu;ation MAF= 0.002235 (East Asians)

      Variant2: NM_000152.5(GAA):c.2003A>G (p.Tyr668Cys)

      ClinVar: 546808

      CAID: N/A

      gnomAD: N/A

      ParentalGenotype:N/A

      PreviouslyPublished:N/A

      ClinVarID:546808 CAID:CA8815007 ClinVarID:346310 ClinVarID:330447 CAID:CA8815009 PreviousTesting:GAAmeasurement Gene:GAA General HGNC:4065 CaseInfo Individual inferred_gene_hgnc:4065 inferred_gene_source:hgnc_tag GAA variant
    Visit annotations in context

    Tags

    Annotators

    URL

    www-nature-com.libproxy.lib.unc.edu/articles/s10038-019-0603-7
  58. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Unusual Cardiac “Masses” in a Newborn with Infantile Pompe Disease
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC3509919/
  59. 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
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC3565631/
  60. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Variable clinical features and genotype-phenotype correlations in 18 patients with late-onset Pompe disease
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC6642945/
  61. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Skeletal muscle pathology of infantile Pompe disease during long-term enzyme replacement therapy
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC3691834/
  62. link-springer-com.libproxy.lib.unc.edu link-springer-com.libproxy.lib.unc.edu
    Desensitization of two young patients with infantile-onset Pompe disease and severe reactions to alglucosidase alfa
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    link-springer-com.libproxy.lib.unc.edu/article/10.1007/s10072-019-03744-3
  63. 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
    Visit annotations in context

    Tags

    Annotators

    URL

    reader.elsevier.com/reader/sd/pii/0049384892902294
  64. Local file Local file
    Document 2
    1

    Tags

    Annotators

  65. www.tandfonline.com www.tandfonline.com
    A new variant of Glanzmann s thrombasthenia with defective activation dependent fibrinogen binding and altered expression of epitopes for several.pdf
    1
    1. ClingenBaseline 23 Oct 2026
      A new variant of Glanzmann's thrombasthenia with defective activation-dependent fibrinogen binding and altered expression of epitopes for several monoclonal antibodies against GP IIb-IIIa

      PMID: 21043690

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This article mentions a GT patient LB with GT; however, no specific variants in ITGA2B and/or ITGB3 are mentioned in this patient 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
    Visit annotations in context

    Tags

    Annotators

    URL

    tandfonline.com/doi/pdf/10.3109/09537109609023581
  66. pubs-acs-org.libproxy.lib.unc.edu pubs-acs-org.libproxy.lib.unc.edu
    Atomic Force Microscopy-Based Molecular Recognition of a Fibrinogen Receptor on Human Erythrocytes
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    pubs-acs-org.libproxy.lib.unc.edu/doi/10.1021/nn1009648
  67. 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
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC5644297/
  68. Local file Local file
    A Glanzmann thrombasthenia family associated with a TUBB1‐related macrothrombocytopenia
    1

    Tags

    Annotators

  69. Local file Local file
    McColl_et_al-1997-British_Journal_of_Haematology.pdf
    1
    1. ClingenBaseline 23 Oct 2026
      Sibling allogeneic bone marrow transplantationin a patient with type I Glanzmann’s thrombasthenia

      PMID: 9359503

      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

    Tags

    Annotators

  70. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Two novel ITGA2B mutations in a Glanzmann thrombasthaenia family associated with different platelet phenotypic expression
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC5589712/
  71. www.jbc.org www.jbc.org
    3789.full.pdf
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    jbc.org/content/267/6/3789.full.pdf
  72. 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
    Visit annotations in context

    Tags

    Annotators

    URL

    journals.sagepub.com/doi/full/10.1354/vp.38-3-249
  73. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    jcinvest00058-0108.pdf
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC295144/pdf/jcinvest00058-0108.pdf
  74. Local file Local file
    Antibody Removal Therapy Used Successfully at Delivery of a Pregnant Patient with Glanzmann&#39;s Thrombasthenia and Multiple Anti-Platelet Antibodies
    1
    1. ClingenBaseline 23 Oct 2026
      Antibody Removal Therapy Used Successfully at Delivery of a Pregnant Patient with Glanzmann’s Thrombasthenia and Multiple Anti-Platelet Antibodies

      PMID: 1949709

      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

    Tags

    Annotators

  75. watermark.silverchair.com watermark.silverchair.com
    1108.pdf
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    watermark.silverchair.com/1108.pdf
  76. ashpublications.org ashpublications.org
    Major mutations in calf-1 and calf-2 domains of glycoprotein IIb in patients with Glanzmann thrombasthenia enable GPIIb/IIIa complex formation, but impair its transport from the endoplasmic reticulum to the Golgi apparatus
    1
    1. ClingenBaseline 23 Oct 2026
      Major mutations in calf-1 and calf-2 domains of glycoprotein IIb in patients with Glanzmann thrombasthenia enable GPIIb/IIIa complex formation, but impair its transport from the endoplasmic reticulum to the Golgi apparatus

      PMID: 12609844

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This article mentions 2 major mutations in the calf-1 and calf-2 domains of ITGA2B. There are no specific Glanzmann thromasthenia patients mentioned that harbor these specific variants; 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
    Visit annotations in context

    Tags

    Annotators

    URL

    ashpublications.org/blood/article/101/12/4808/17055/Major-mutations-in-calf-1-and-calf-2-domains-of
  77. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    R to Q amino acid substitution in the GFFKR sequence of the cytoplasmic domain of the integrin IIb subunit in a patient with a Glanzmann's thrombas... - PubMed - NCBI
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pubmed/9834222
  78. www.ahajournals.org www.ahajournals.org
    Two Types of Procoagulant Platelets Are Formed Upon Physiological Activation and Are Controlled by Integrin αIIbβ3 | Arteriosclerosis, Thrombosis, and Vascular Biology
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ahajournals.org/doi/full/10.1161/ATVBAHA.112.253765
  79. Local file Local file
    Untitled-5
    1

    Tags

    Annotators

  80. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Glanzmann Thrombasthenia in Children From Argentina
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/8556365-glanzmann-thrombasthenia-in-children-from-argentina/
  81. Local file Local file
    1997; 82-1
    1
    1. ClingenBaseline 23 Oct 2026
      PLATELET TRANSFUSION IN A PATIENT AFFECTED BY GLANZMANN'STHROMBASTHENIA WITH ANTIBODIES AGAINST GPIIb-IIIa

      PMID: 9107089

      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

    Tags

    Annotators

  82. 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
    Visit annotations in context

    Tags

    Annotators

    URL

    tandfonline.com/doi/full/10.1080/09537104.2017.1386297
  83. ashpublications.org ashpublications.org
    Identification of a region in glycoprotein IIIa involved in subunit association with glycoprotein IIb: further lessons from Iraqi-Jewish Glanzmann thrombasthenia
    1
    1. ClingenBaseline 23 Oct 2026
      Identification of a region in glycoprotein IIIa involved in subunit association with glycoprotein IIb: further lessons from Iraqi-Jewish Glanzmann thrombasthenia

      PMID: 11719373

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This article mentions variants in ITGA2B/ITGB3; however, no probands discussed in this article

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 InsufficientEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
    Visit annotations in context

    Tags

    Annotators

    URL

    ashpublications.org/blood/article/98/4/1063/107115/Identification-of-a-region-in-glycoprotein-IIIa
  84. ashpublications.org ashpublications.org
    Enzymatically catalyzed disulfide exchange is required for platelet adhesion to collagen via integrin α2β1
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ashpublications.org/blood/article/102/6/2085/17155/Enzymatically-catalyzed-disulfide-exchange-is
  85. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Glanzmann's Thrombastenia: The Role of Tranexamic Acid in Oral Surgery
    1
    1. ClingenBaseline 23 Oct 2026
      Glanzmann's Thrombastenia: The Role of Tranexamic Acid in Oral Surgery

      PMID: 30254767

      Gene: ITGA2B and/or ITGB3 (Proband diagnosed with Gt therefore these genes may be involved here)

      HGNC: 6138 and 6156

      InsufficientEvidence: Proband with Glanzmann Thrombasthenia described here however no mention of variants therefore insufficient evidence

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 InsufficientEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC6145161/
  86. 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
    Visit annotations in context

    Tags

    Annotators

    URL

    reader.elsevier.com/reader/sd/pii/S0049384897002235
  87. www.jbc.org www.jbc.org
    Mechanistic Insights from a Refined Three-dimensional Model of Integrin αIIbβ3
    1
    1. ClingenBaseline 23 Oct 2026
      Mechanistic Insights from a Refined Three-dimensionalModel of IntegrinIIb3*

      PMID: 15056669

      Gene: ITGA2B and ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This article mentions Glanzmann thrombasthenia variants; however, no patients with GT are mentioned with these variants 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
    Visit annotations in context

    Tags

    Annotators

    URL

    jbc.org/content/279/23/24624.full.pdf
  88. ashpublications.org ashpublications.org
    Fibrin-Dependent Platelet Procoagulant Activity Requires GPIb Receptors and von Willebrand Factor
    1
    1. ClingenBaseline 23 Oct 2026
      Fibrin-Dependent Platelet Procoagulant Activity Requires GPIb Receptors and von Willebrand Factor

      PMID: 9885217

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This article references a GT patient, which was reported as a case report in another article; however, no specific case reports are mentioned in this article

      PreviouslyPublished: PMID: 2014236

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 InsufficientEvidence PreviouslyPublished inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
    Visit annotations in context

    Tags

    Annotators

    URL

    ashpublications.org/blood/article/93/2/564/247812/Fibrin-Dependent-Platelet-Procoagulant-Activity
  89. www.jbc.org www.jbc.org
    Critical Residues of Integrin αIIb Subunit for Binding of αIIbβ3 (Glycoprotein IIb-IIIa) to Fibrinogen and Ligand-mimetic Antibodies (PAC-1, OP-G2, and LJ-CP3)
    1
    1. ClingenBaseline 23 Oct 2026
      Critical Residues of IntegrinaIIb Subunit for Binding ofaIIbb3(Glycoprotein IIb-IIIa) to Fibrinogen and Ligand-mimeticAntibodies (PAC-1, OP-G2, and LJ-CP3)*

      PMID: 8702512

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This article mentions variants in ITGA2B and/or ITGB3; however, there are no Glanzmann thrombasthenia case reports 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
    Visit annotations in context

    Tags

    Annotators

    URL

    jbc.org/content/271/31/18610.full.pdf
  90. files.libcom.org files.libcom.org
    Revista 6-2 jul-dec 2007.p65
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    files.libcom.org/files/Paulo Freire, Myra Bergman Ramos, Donaldo Macedo - Pedagogy of the Oppressed, 30th Anniversary Edition (2000, Bloomsbury Academic).pdf
  91. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Triple heterozygosity in the integrin αIIb subunit in a patient with Glanzmann's thrombasthenia
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    onlinelibrary.wiley.com/doi/full/10.1046/j.1538-7836.2004.00711.x
  92. Local file Local file
    Coronary Artery Bypass Grafting in a Patient with Glanzmann's Thrombasthenia
    1

    Tags

    Annotators

  93. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Thalidomide for the Treatment of Gastrointestinal Bleeding Due to Angiodysplasia in a Patient with Glanzmann’s Thrombasthenia
    1
    1. ClingenBaseline 23 Oct 2026
      Thalidomide for the Treatment of Gastrointestinal Bleeding Due to Angiodysplasia in a Patient with Glanzmann’s Thrombasthenia

      PMID: 28670433

      Gene: ITGA2B and ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This article describes a proband with Glanzmann thrombasthenia; however, there is no mention of variants in ITGA2B and ITGB3 in this proband.

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 InsufficientEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC5477473/
  94. www.ahajournals.org www.ahajournals.org
    atvb_atvb-2019-313191_supp1.pdf
    1
    1. ClingenBaseline 23 Oct 2026
      GT5

      Case#: 19, female

      Disease: Glazmann's Thrombasthenia

      CasePresentingHPOs: HP:0000967, HP:0000978, HP:0000225, HP:0006298, HP:0001892

      PlateletAgreggation: Defective response to ADP, Adrenaline, Collagen, Arachidonic acid. Normal response to Ristocetin.

      GenotypingMethod: Genomic DNA was extracted from peripheral blood leukocytes for mutational analysis of the αIIb and β3 genes by DNA sequencing

      Allele 1:

      ClinVar: 1330339

      CAID: CA400024922

      Variant: NM_000212.3:c.856G>A

      GnomAD: Not Found

      Allele 2

      ClinVar: 1330314

      CAID: CA400028591

      Variant: NM_000212.3:c.1288C>T

      GnomAD: Highest in European non-Finnish population 0.000008801 (1/113622)

      ExpressionEvidence: Flow Cytometry of platelet integrin: 10% B3 expression, 86.6% A2B expression

      Zygosity:Compoundheterozygote Individual CaseInfo General CaID:CA400024922 CAID:CA400028591 Gene:ITGB3 inferred_gene_hgnc:6156 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3
    Visit annotations in context

    Tags

    Annotators

    URL

    ahajournals.org/action/downloadSupplement
  95. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Glanzmann's Thrombasthenia Diagnosed following Knee Arthroscopy
    1
    1. ClingenBaseline 23 Oct 2026
      Glanzmann's Thrombasthenia Diagnosed following Knee Arthroscopy

      PMID: 26000186

      Gene: Patient could have variation in ITGA2B or ITGB3, article does not specify; however, patient has GT so it is implied one of the two genes is involved

      HGNC: 6138 and 6156

      InsufficientEvidence: This article mentions a proband who was diagnosed with Glanzmann thrombasthenia; however, there is no mention of variants in ITGA2B or ITGB3 in this patient; therefore, we have insufficient evidence

      ClinGen General InsufficientEvidence ITGA2B ITGB3 HGNC:6138 HGNC:6156 inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC4426658/
  96. www-thieme-connect-de.libproxy.lib.unc.edu www-thieme-connect-de.libproxy.lib.unc.edu
    Binding of plasma factor XIII to thrombin-receptor activated human platelets
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    www-thieme-connect-de.libproxy.lib.unc.edu/products/ejournals/pdf/10.1160/TH09-01-0054.pdf
  97. Local file Local file
    CPLA_A_312502_P 322..327
    1

    Tags

    Annotators

  98. ashpublications.org ashpublications.org
    A dinucleotide deletion in exon 4 of the PlA2 allelic form of glycoprotein IIIa: implications for the correlation of serologic versus genotypic analysis of human platelet alloantigens
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ashpublications.org/blood/article/88/10/3831/125027/A-dinucleotide-deletion-in-exon-4-of-the-PlA2
  99. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Total Extraction as a Treatment for Anaemia in a Patient of Glanzmann’s Thrombasthenia with Chronic Gingival Bleed: Case Report
    1
    1. ClingenBaseline 23 Oct 2026
      Total Extraction as a Treatment for Anaemia in a Patient of Glanzmann’s Thrombasthenia with Chronic Gingival Bleed: Case Report

      PMID: 26894187

      Gene: ITGA2B and/or ITGB3 (Article does not explicitly state these genes; however, patient has Glanzmann thrombasthenia so these two genes are implied)

      HGNC: 6138 and 6156

      InsufficientEvidence: This article mentions a case report of an 18 year old male patient with Glanzmann thromasthenia; however, there are no variants in ITGA2B or ITGB3 that are mentioned here

      ClinGen General InsufficientEvidence ITGA2B ITGB3 HGNC:6138 HGNC:6156 inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC4740716/
  100. pdfs.semanticscholar.org pdfs.semanticscholar.org
    414.full.pdf
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    pdfs.semanticscholar.org/c455/88ee9a287613b4e96a74310f19f77ead7d73.pdf
  101. Local file Local file
    hae_2516 858..869
    1
    1. ClingenBaseline 23 Oct 2026
      A systematic review of the management and outcomes ofpregnancy in Glanzmann thrombasthenia

      PMID: 21457404

      Genes: ITGA2B and ITGB3

      HGNC: 6138 and 6156

      Insufficient Evidence: This article reports the results of a systematic review of management and outcome data contained within all published descriptions of pregnancy in GT. Probands with GT are mentioned; however, no variants are mentioned.

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

    Tags

    Annotators

  102. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    A Cys374Tyr homozygous mutation of platelet glycoprotein IIIa (beta 3) in a Chinese patient with Glanzmann's thrombasthenia. - PubMed - NCBI
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pubmed/8781422
  103. Local file Local file
    RCH52
    1
    1. ClingenBaseline 23 Oct 2026
      INHERITEDDEFECTS OFPLATELETFUNCTION

      PMID: 11844132

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This article mentions variants in ITGA2B and ITGB3; however, there are no specific Glanzmann thrombasthenia patients with the mentioned variants; 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

    Tags

    Annotators

  104. watermark.silverchair.com watermark.silverchair.com
    ajcpath130-0093.pdf
    1
    1. ClingenBaseline 23 Oct 2026
      Carrier Detection in Glanzmann ThrombastheniaComparison of Flow Cytometry and Western Blot With Respect to DNA Mutation

      PMID: 18550477

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This article mentions probands with GT; however, the probands are clumped together, and variants are not specifically tied to probands

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 InsufficientEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
    Visit annotations in context

    Tags

    Annotators

    URL

    watermark.silverchair.com/ajcpath130-0093.pdf
  105. Local file Local file
    Concomitant occurrence of mucopolysaccharidosis IIIB and Glanzmann's thrombasthenia. Further evidence of a hyperactive α-N-acetylglucosaminidase-producing allele
    1
    1. ClingenBaseline 23 Oct 2026
      Concomitant occurrence of mucopolysaccharidosis IIIB and Glanzmann's thrombasthenia. Further

      PMID: 1606713

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

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

    Tags

    Annotators

  106. ashpublications.org ashpublications.org
    Two novel mutations in the αIIb calcium-binding domains identify hydrophobic regions essential for αIIbβ3 biogenesis
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ashpublications.org/blood/article/101/6/2268/106593/Two-novel-mutations-in-the-IIb-calcium-binding
  107. Local file Local file
    2002; 04
    1

    Tags

    Annotators

  108. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Homozygous Cys542→Arg substitution in GPIIIa in a Swiss patient with type I Glanzmann's thrombasthenia
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    onlinelibrary.wiley.com/doi/full/10.1111/j.1365-2141.1999.01376.x
  109. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Glanzmann's thrombasthenia due to a point mutation within intron 10 results in aberrant splicing of the β3 gene
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    onlinelibrary.wiley.com/doi/full/10.1046/j.1538-7836.2003.00423.x
  110. 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
    Visit annotations in context

    Tags

    Annotators

    URL

    ahajournals.org/doi/full/10.1161/01.atv.17.1.156
  111. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Periodontal considerations for Glanzmann's thrombasthenic patient
    1
    1. ClingenBaseline 23 Oct 2026
      Periodontal considerations for Glanzmann's thrombasthenic patient

      PMID: 20142940

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This article mentions a case report of a 9 year old GT patient who presented with gum bleeding; however, no specific variants in ITGA2B and/or ITGB3 are presented in this patient; therefore we have insufficient evidnece

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 InsufficientEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC2813551/
  112. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Acquired Glanzmann's thrombasthenia associated with acute lymphoblastic leukemia. - PubMed - NCBI
    1
    1. ClingenBaseline 23 Oct 2026
      Acquired Glanzmann's thrombasthenia associated with acute lymphoblastic leukemia.

      PMID: 16217260

      Genes: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This article mentions a proband with GT; however, no variants in ITGA2B and/or ITGB3 are mentioned 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
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pubmed/16217260
  113. www.sciencedirect.com www.sciencedirect.com
    Correction of a large animal model of type I Glanzmann's thrombasthenia by nonmyeloablative bone marrow transplantation
    1
    1. ClingenBaseline 23 Oct 2026
      Correction of a large animal model of type I Glanzmann's thrombasthenia by nonmyeloablative bone marrow transplantation

      PMID: 14662345

      Gene: ITGA2B

      HGNC: 6138

      InsufficientEvidence: This article mentions dogs with GT; however, the article states, "These animals have a 14-base insertion in exon 13 of glycoprotein IIb gene" which is a variant in ITGA2B. This variant may only be specific to dogs; however, just wanted to make note of this gene alteration.

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

    Tags

    Annotators

    URL

    sciencedirect.com/science/article/pii/S0301472X03003102
  114. Local file Local file
    Menorrhagia due to abnormalities of the platelet function: Evaluation of two young patients
    1
    1. ClingenBaseline 23 Oct 2026
      Menorrhagia due to abnormalities of the platelet function: Evaluation of two young patients

      PMID: 17250517

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This article mentions two GT case reports of girls with menorrhagia; however, there was no mention of variants in ITGA2B and/or ITGB3; 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

    Tags

    Annotators

  115. ashpublications.org ashpublications.org
    A point mutation in the cysteine-rich domain of glycoprotein (GP) IIIa results in the expression of a GPIIb-IIIa (αIIbβ3) integrin receptor locked in a high-affinity state and a Glanzmann thrombasthenia–like phenotype
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ashpublications.org/blood/article/98/8/2432/53319/A-point-mutation-in-the-cysteine-rich-domain-of
  116. www-thieme-connect-de.libproxy.lib.unc.edu www-thieme-connect-de.libproxy.lib.unc.edu
    Rapid diagnosis of the French gypsy mutation in Glanzmann thrombasthenia using high-resolution melting analysis
    1
    1. ClingenBaseline 23 Oct 2026
      Rapid diagnosis of the French gypsy mutation in Glanzmann thrombasthenia using high- resolution melting analysis

      PMID: 20886184

      Gene: ITGA2B

      HGNC: 6138

      InsufficientEvidence: This article discusses the French Gypsy variant NM_000419.3:c.1544+1G>A (p.Val513Leufs*71) in ITGA2B and mentions a cohort of patients harboring this variant; however, there are no specific case level reports mentioned in this article therefore we have insufficient evidence

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

    Tags

    Annotators

    URL

    www-thieme-connect-de.libproxy.lib.unc.edu/products/ejournals/pdf/10.1160/TH10-05-0268.pdf
  117. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Immunization against αIIbβ3 and αvβ3 in Glanzmann thrombasthenia patients carrying the French Gypsy mutation
    1
    1. ClingenBaseline 23 Oct 2026
      GT6

      Case: 37 year old male French Gypsy

      CasePresentingHPOs: HP:0001975

      (Decreased platelet glycoprotein IIb-IIIa)

      GenotypingMethod:Genotyping analysis of the HPA-1 system by high resolution melting analysis (methods not provided, cited article I don't have access too)

      ClinVar: 2895

      CAID: CA10575473

      Variant: NM_000419.5:c.1544+1G>A

      GnomAD: Not found

      ExpressionEvidence: Failed to express αIIbβ3 integrin on their platelet surface (methods not provided cited article no access too)

      CAID:CA10575473 Individual CaseInfo Gene:ITGA2B General inferred_gene_hgnc:6138 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3
    Visit annotations in context

    Tags

    Annotators

    URL

    onlinelibrary.wiley.com/doi/10.1111/jth.15117
  118. Local file Local file
    untitled
    1

    Tags

    Annotators

  119. Local file Local file
    A unique phenotype of acquired Glanzmann thrombasthenia due to non‐function‐blocking anti‐αIIbβ3 autoantibodies
    1
    1. ClingenBaseline 23 Oct 2026
      A unique phenotype of acquired Glanzmann thrombastheniadue to non-function-blocking anti-aIIbb3 autoantibodies

      PMID: 30388316

      Gene: ITGA2B and/or ITGB3 (Proband presented with GT therefore these two genes may be involved)

      HGNC: 6138 and 6156

      InsufficientEvidence: Proband with Glanzmann thrombasthenia presented in this article; however, no variant information provided

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

    Tags

    Annotators

  120. Local file Local file
    Expanding the Mutation Spectrum Affecting &#x003B1;IIb&#x003B2;3 Integrin in Glanzmann Thrombasthenia: Screening of the <i>ITGA2B</i> and <i>ITGB3</i> Genes in a Large International Cohort
    1
    1. ClingenBaseline 23 Oct 2026
      Expanding the Mutation Spectrum AffectingαIIbβ3Integrin in Glanzmann Thrombasthenia: Screening of theITGA2BandITGB3Genes in a Large International Cohor

      PMID: 25728920

      Genes: ITGA2B and ITGB3

      HGNC: 6138 and 6156

      Note: In the annotations, case #'s don't always match up with the exact proband #, because not all probands had GT variants identified in them

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

    Tags

    Annotators

  121. Local file Local file
    Type I Glanzmann thrombasthenia: Most common subtypes in North Indians
    1
    1. ClingenBaseline 23 Oct 2026
      Type I Glanzmann Thrombasthenia: Most CommonSubtypes in North Indians

      PMID: 14508803

      Gene: ITGA2B and ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This article mentions GT patients however no variants in ITGA2B and/or ITGB3 are mentioned in these patients.

      In this study the goal was to determine what the common subtype of GT was: The expression of GPIIb/IIIa on the platelet surface was assessed in 10 patients with Glanzmann thrombasthenia and their families by flow cytometry to determine the common subtype in North Indians

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

    Tags

    Annotators

  122. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Abnormal Whole Blood Thrombi in Humans with Inherited Platelet Receptor Defects
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC3532496/
  123. Local file Local file
    Identifying human platelet glycoproteins IIb and IIIa by capillary electrophoresis
    1
    1. ClingenBaseline 23 Oct 2026
      Identifying human platelet glycoproteins IIb and IIIa by capillary electrophoresis

      PMID: 9694297

      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

    Tags

    Annotators

  124. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Epistaxis as a Common Presenting Symptom of Glanzmann's Thrombasthenia, a Rare Qualitative Platelet Disorder: Illustrative Case Examples
    1
    1. ClingenBaseline 23 Oct 2026
      Epistaxis as a Common Presenting Symptom of Glanzmann's Thrombasthenia, a Rare Qualitative Platelet Disorder: Illustrative Case Examples

      PMID: 28299211

      Gene: ITGA2B and ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This article mentions cases of patients with Glanzmann thrombasthenia and their phenotypes; however, no mention of variants in ITGB3 or ITGA2B

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 InsufficientEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC5337314/
  125. 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
    Visit annotations in context

    Tags

    Annotators

    URL

    jcs.biologists.org/content/joces/106/4/1189.full.pdf
  126. Local file Local file
    REV_ISS_WEB_BJH_14283_175-4 686..695
    1
    1. ClingenBaseline 23 Oct 2026

      Supplementary Table S1:

      Case13: GT14, French, gender age and ethnicity not specified

      DiseaseAssertion: Glanzmann thrombasthenia type I

      FamilyInfo: N/A

      ParentalGenotype: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: All patients had a life-long history of mucocutaneous bleeding

      CaseNotHPOs: N/A

      CaseNotHPOsFreeText: N/A

      ProteinExpression: All patients in this study met the clinical and platelet function requirements for GT-- this includes an absent or strongly reduced expression of alphaIIbBeta3 in platelets

      PlateletAggregation: All patients in this study met the clinical and platelet function requirements for GT-- this includes absent or severely reduced platelet aggregation with at least three physiological agonists

      CasePreviousTesting: Sanger sequencing was performed. Sanger sequencing ensured coverage of all exons and splice sties of the ITGA2B and ITGB3 genes and extended 300-500 bp into the introns as well as including the UTR. They sequenced 416 bp upstream of the ITGA2B promoter and 463 bp upstream of the ITGB3 promoter. In total they sequenced 51.2% of the ITGA2B gene and 19.4% of the larger ITGB3 gene

      Gene: ITGA2B

      Variant: NM_000419.3:c.423G>T (p.Trp141Cys) and NM_000419.3:c.2902del (p.Tyr968Metfs*163)

      LegacyVariant: N/A

      ClinVar: N/A

      CAiD: CA399806022 and CA915940332

      gnomAD: N/A

      ClinGen General Gene:ITGA2B InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Mutation:Missense Mutation:Frameshift Zygosity:CompoundHeterozygous CAiD:CA399806022 CAiD:CA915940332 PreviousTesting:Full ProteinExpression:MinimalInformation PlateletAggregation:MinimalInformation SupplementalData inferred_gene_hgnc:6138 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3

    Tags

    Annotators

  127. Local file Local file
    A new case of acquired Glanzmann's thrombasthenia: Diagnostic value of flow cytometry
    1
    1. ClingenBaseline 23 Oct 2026
      A New Case of Acquired Glanzmann’sThrombasthenia: Diagnostic Value ofFlow Cytometry

      PMID: 18200593

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This article mentions a 27 year old proband with Glanzmann thrombasthenia; however, no variants in ITGA2B and/or ITGB3 were mentioned in this proband 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

    Tags

    Annotators

  128. pediatrics-aappublications-org.libproxy.lib.unc.edu pediatrics-aappublications-org.libproxy.lib.unc.edu
    Prospective Diagnosis of 2-Methylbutyryl-CoA Dehydrogenase Deficiency in the Hmong Population by Newborn Screening Using Tandem Mass Spectrometry
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    pediatrics-aappublications-org.libproxy.lib.unc.edu/content/112/1/74
  129. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Mutations in the Dimer Interface of Dihydrolipoamide Dehydrogenase Promote Site-specific Oxidative Damages in Yeast and Human Cells
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC3220568/
  130. www.sciencedirect.com www.sciencedirect.com
    2-Methylbutyryl-coenzyme A dehydrogenase deficiency: Functional and molecular studies on a defect in isoleucine catabolism
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    sciencedirect.com/science/article/pii/S1096719207004015
  131. www.zora.uzh.ch www.zora.uzh.ch
    Molecular identification of aspartate N-acetyltransferase and its mutation in hypoacetylaspartia
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    zora.uzh.ch/id/eprint/44443/
  132. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Rare Etiology of Autosomal Recessive Disease in a Child with Noncarrier Parents
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC1287534/
  133. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    A novel RAB39B mutation and concurrent de novo NF1 mutation in a boy with neurofibromatosis type 1, intellectual disability, and autism: a case report
    1
    1. ClingenBaseline 23 Oct 2026
      A novel RAB39B mutation and concurrent de novo NF1 mutation in a boy with neurofibromatosis type 1, intellectual disability, and autism: a case report

      PMID: 28851564

      Gene: RAB39B

      Disease: early-onset parkinsonism-intellectual disability syndrome

      MonDO: MONDO:0010709

      Notes: The proband reported has clinical features of neurofibromatosis, with a de novo donor splice site variant in NF1, as well as a 12-bp deletion in RAB39B, which the authors assert was responsible for the phenotypes of severe ID, behavioral problems and aggressiveness.

      ClinGen General Gene:RAB39B inferred_gene_hgnc:16499 inferred_gene_source:Gene_Name UNC Biocuration Core
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC7460788/
  134. www-nejm-org.libproxy.lib.unc.edu www-nejm-org.libproxy.lib.unc.edu
    Telomerase Mutations and the Pulmonary Fibrosis–Bone Marrow Failure Syndrome Complex | NEJM
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    www-nejm-org.libproxy.lib.unc.edu/doi/full/10.1056/NEJMc1206730
  135. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Mucopolysaccharidosis IVA: Submicroscopic deletion of 16q24.3 and a novel R386C mutation of n-acetylgalactosamine-6-sulfate sulfatase gene in a classical Morquio disease
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/pdfdirect/10.1002/(SICI)1098-1004(1996)7:2<123::AID-HUMU6>3.0.CO;2-D
  136. www.sciencedirect.com www.sciencedirect.com
    Transcription Impairment and Cell Migration Defects in Elongator-Depleted Cells: Implication for Familial Dysautonomia
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    sciencedirect.com/science/article/pii/S1097276506002656
  137. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Diagnostic exome sequencing in early‐onset Parkinson's disease confirms VPS13C as a rare cause of autosomal‐recessive Parkinson's disease
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    onlinelibrary.wiley.com/doi/full/10.1111/cge.13124
  138. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    RAB39B Deficiency Impairs Learning and Memory Partially Through Compromising Autophagy
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC7753041/
  139. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Morquio Syndrome Presenting with Dural Band Pathology: A Case Report
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC7773441/
  140. www-sciencedirect-com.libproxy.lib.unc.edu www-sciencedirect-com.libproxy.lib.unc.edu
    Four novel mutations in the N-acetylgalactosamine-6-sulfate sulfatase gene among Egyptian patients with Morquio A disease
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    www-sciencedirect-com.libproxy.lib.unc.edu/science/article/pii/S0378111916308800
  141. www-ncbi-nlm-nih-gov.libproxy.lib.unc.edu www-ncbi-nlm-nih-gov.libproxy.lib.unc.edu
    Telomerase and Idiopathic Pulmonary Fibrosis
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    www-ncbi-nlm-nih-gov.libproxy.lib.unc.edu/pmc/articles/PMC3292861/
  142. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Single synonymous mutation in Factor IX alters protein properties and underlies hemophilia B
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC6192418/
  143. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    The Molecular Basis of FIX Deficiency in Hemophilia B
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC8911121/
  144. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    The human factor IX gene as germline mutagen test: Samples from mainland China have the putatively endogenous pattern of mutation
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/pdf/10.1002/1098-1004(200007)16:1<31::AID-HUMU6>3.0.CO
  145. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    JTH-20-69.pdf
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC9298354/pdf/JTH-20-69.pdf
  146. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Twenty-five novel mutations of the factor IX gene in haemophilia B
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/8680410/
  147. link.springer.com link.springer.com
    Germline origins in the human F9 gene: frequent G:C→A:T mosaicism and increased mutations with advanced maternal age
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    link.springer.com/article/10.1007/s004399900158
  148. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    ajhg00092-0032.pdf
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC1683712/pdf/ajhg00092-0032.pdf
  149. www-jbc-org.libproxy.lib.unc.edu www-jbc-org.libproxy.lib.unc.edu
    Factor IX San Dimas
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    www-jbc-org.libproxy.lib.unc.edu/article/S0021-9258(18)60478-8/pdf
  150. 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
    Visit annotations in context

    Tags

    Annotators

    URL

    pubs.acs.org/doi/10.1021/acs.jmedchem.9b00652
  151. illiad.lib.unc.edu illiad.lib.unc.edu
    3078221.pdf
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    illiad.lib.unc.edu/NOH/illiad.dll
  152. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Fast and efficient mutation detection method using multiplex PCR and cycle sequencing--application to haemophilia B
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/10739381/
  153. www.sciencedirect.com www.sciencedirect.com
    Clinical assessment of cervical movement sense in those with neck pain compared to asymptomatic individuals
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    sciencedirect.com/science/article/pii/S2468781218304673
  154. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    981619.pdf
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC507595/pdf/981619.pdf
  155. academic.oup.com academic.oup.com
    Advances and challenges for hemophilia gene therapy
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    academic.oup.com/hmg/advance-article/doi/10.1093/hmg/ddz157/5537029
  156. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Germline mutations in the factor IX gene: a comparison of the pattern in Caucasians and non-Caucasians
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/8499919/
  157. pdf.sciencedirectassets.com pdf.sciencedirectassets.com
    PII: 0049-3848(92)90249-A
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    pdf.sciencedirectassets.com/271043/1-s2.0-S0049384800X04367/1-s2.0-004938489290249A/main.pdf
  158. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Novel approach to genetic analysis and results in 3000 hemophilia patients enrolled in the My Life, Our Future initiative
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC5727804/
  159. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Haemophilia B caused by a missense mutation in the prepeptide sequence of factor IX
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/pdf/10.1002/humu.1380020207
  160. www-thieme-connect-de.libproxy.lib.unc.edu www-thieme-connect-de.libproxy.lib.unc.edu
    Spectrum of F8 Genotype and Genetic Impact on Inhibitor Development in Patients with Hemophilia A from Multicenter Cohort Studies (J-HIS) in Japan
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    www-thieme-connect-de.libproxy.lib.unc.edu/products/ejournals/abstract/10.1055/s-0040-1721385
  161. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Compound heterozygous hemophilia A in a female patient and the identification of a novel missense mutation, p.Met1093Ile
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC3896510/
  162. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Molecular Analysis of Factor VIII and Factor IX Genes in Hemophilia Patients: Identification of Novel Mutations and Molecular Dynamics Studies
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC5330775/
  163. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Usefulness of an in vitro cellular expression model for haemophilia A carrier diagnosis: illustration with five novel mutations in the F8 gene in women with isolated factor VIII:C deficiency
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/full/10.1111/hae.12651
  164. Local file Local file
    Role of chromogenic assays in haemophilia A and B diagnosis
    1

    Tags

    Annotators

  165. scielo.conicyt.cl scielo.conicyt.cl
    Adequate diagnosis of acquired hemophilia A
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    scielo.conicyt.cl/scielo.php
  166. onlinelibrary.wiley.com onlinelibrary.wiley.com
    j.1365-2141.1997.2213036.x.pdf
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    onlinelibrary.wiley.com/doi/pdfdirect/10.1046/j.1365-2141.1997.2213036.x
  167. www.sciencedirect.com www.sciencedirect.com
    Extensive serum cytokine analysis in patients with prostate cancer
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    sciencedirect.com/science/article/pii/S104346661930239X
  168. pdf.sciencedirectassets.com pdf.sciencedirectassets.com
    PII: 0092-8674(86)90319-3
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    pdf.sciencedirectassets.com/272196/1-s2.0-S0092867400X02048/1-s2.0-0092867486903193/main.pdf
  169. Local file Local file
    Enhanced potency of recombinant factor VIIa with increased affinity to activated platelets
    1

    Tags

    Annotators

  170. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    A genetic analysis of 23 Chinese patients with hemophilia B
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC4842959/
  171. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Prediction of factor VIII inhibitor development in the SIPPET cohort by mutational analysis and factor VIII antigen measurement
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    onlinelibrary.wiley.com/doi/full/10.1111/jth.13961
  172. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Homozygous and heterozygous retinal phenotypes in families harbouring IMPG2 mutations
    1
    1. ClingenBaseline 22 Oct 2026
      Homozygous and heterozygous retinal phenotypes in families harbouring IMPG2 mutations

      PMID: 31264916

      Gene: IMPG2

      HGNC: 18362

      Disease: retinitis pigmentosa 56

      MONDO: 0013314

      InheritancePattern: semi-dominant

      Prevalence: Vitelliform macular dystrophy in general is estimated to have a prevalence of 1 in 5,500 (PMID: 27120116).

      Penetrance: The penetrance of the phenotype among homozygous cases appears to be complete, while heterozygous carriers of deleterious variants show incomplete penetrance and variable expressivity.

      General ClinGen Gene:IMPG2 HGNC:18362 inferred_gene_hgnc:18362 inferred_gene_source:hgnc_tag Retina GCEP
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/31264916/
  173. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density
    1
    1. ClingenBaseline 22 Oct 2026
      Six Novel Missense Mutations in the LDL Receptor-Related Protein 5 (LRP5) Gene in Different Conditions with an Increased Bone Density

      PMID: 12579474

      Gene: LRP5

      HGNC: 6697

      Disease: osteoporosis-pseudoglioma syndrome

      MONDO: 0009820

      InheritancePattern: autosomal recessive

      Prevalence: osteoporosis-pseudoglioma syndrome is estimated to occur in 1 out of every 2,000,000 live births.

      Penetrance: The penetrance of the phenotype among homozygous or compound heterozygous cases appears to be complete, while heterozygous carriers of deleterious variants appear to be mildly affected.

      General ClinGen Gene:LRP5 HGNC:6697 inferred_gene_hgnc:6697 inferred_gene_source:hgnc_tag Retina GCEP
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC1180253/
  174. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    The human U4/U6 snRNP contains 60 and 90kD proteins that are structurally homologous to the yeast splicing factors Prp4p and Prp3p
    1
    1. ClingenBaseline 22 Oct 2026
      The human U4/U6 snRNP contains 60 and 90kD proteins that are structurally homologous to the yeast splicing factors Prp4p and Prp3p

      PMID: 9257651

      Gene: PRPF4

      HGNC: 17349

      Disease: retinitis pigmentosa 70

      MONDO: 0014400

      InheritancePattern: autosomal dominant

      Prevalence: The overall prevalence of retinitis pigmentosa is between 1 in 3,000 and 1 in 4,000 individuals, while the proportion of retinitis pigmentosa with a dominant mode of inheritance is estimated to be 15-35% (between 1 in 8,500 and 1 in 27,000). The proportion of that incidence made up by the specific form caused by variants in PRPF4 is not clear.

      Penetrance: Known disease-causing alleles appear to be incompletely penetrant (PMID: 25383878).

      General ClinGen Gene:PRPF4 HGNC:17349 inferred_gene_hgnc:17349 inferred_gene_source:hgnc_tag Retina GCEP
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/9257651/
  175. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC5223092/
  176. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Aberrant RNA splicing is the major pathogenic effect in a knock-in mouse model of the dominantly inherited c.1430A>G human RPE65 mutation
    1
    1. ClingenBaseline 22 Oct 2026
      Aberrant RNA splicing is the major pathogenic effect in a knock-in mouse model of the dominantly inherited c.1430A>G human RPE65 mutation

      PMID: 30628748

      Gene: RPE65

      HGNC: 10294

      Disease: Retinitis pigmentosa 87 with choroidal involvement

      MONDO: 0032873

      InheritancePattern: Autosomal Dominant

      Prevalence: The overall prevalence of Retinitis pigmentosa is between 1 in 3,000 and 1 in 4,000 individuals, while the proportion of Retinitis pigmentosa with a dominant mode of inheritance is estimated to be 15-35% (between 1 in 8,000 and 1 in 27,000). The prevalence of Retinitis pigmentosa 87 with choroidal involvement is considered to be much lower.

      Penetrance: Incomplete penetrance, estimated at 80%

      General ClinGen Gene:RPE65 HGNC:10294 inferred_gene_hgnc:10294 inferred_gene_source:hgnc_tag Retina GCEP
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC6425930/
  177. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Oa1 knock-out: new insights on the pathogenesis of ocular albinism type 1
    1
    1. ClingenBaseline 22 Oct 2026
      Oa1 knock-out: new insights on the pathogenesis of ocular albinism type 1

      PMID: 11092754

      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
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/11092754/
  178. academic.oup.com academic.oup.com
    A mouse model for Finnish variant late infantile neuronal ceroid lipofuscinosis, CLN5, reveals neuropathology associated with early aging
    1
    1. ClingenBaseline 22 Oct 2026
      A mouse model for Finnish variant late infantile neuronal ceroid lipofuscinosis, CLN5, reveals neuropathology associated with early aging

      PMID: 15459177

      Gene: CLN5

      HGNC: 2076

      Disease: Ceroid lipofuscinosis, neuronal, 5 (also known as Finnish variant late infantile neuronal ceroid lipofuscinosis, neuronal ceroid lipofuscinosis late infantile Finnish variant, or Finnish vLINCL)

      MONDO: 0009745

      InheritancePattern: Autosomal Recessive

      Prevalence: Unknown, but part of a larger group of NCL disorders with a collective prevalence between 1 in 12,500 (PMID:9662406) and 1 in 100,000 (PMID:23374165)

      Penetrance: Fully penetrant, with onset often in the late infantile period but in some cases during early adulthood or even as late as in the 6th decade of life

      General ClinGen Gene:CLN5 HGNC:2076 inferred_gene_hgnc:2076 inferred_gene_source:hgnc_tag Retina GCEP
    Visit annotations in context

    Tags

    Annotators

    URL

    academic.oup.com/hmg/article/13/23/2893/625560
  179. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Proteoglycan IMPG2 Shapes the Interphotoreceptor Matrix and Modulates Vision
    1
    1. ClingenBaseline 22 Oct 2026
      Proteoglycan IMPG2 Shapes the Interphotoreceptor Matrix and Modulates Vision

      PMID: 32265257

      Gene: IMPG2

      HGNC: 18362

      Disease: retinitis pigmentosa 56

      MONDO: 0013314

      InheritancePattern: semi-dominant

      Prevalence: Vitelliform macular dystrophy in general is estimated to have a prevalence of 1 in 5,500 (PMID: 27120116).

      Penetrance: The penetrance of the phenotype among homozygous cases appears to be complete, while heterozygous carriers of deleterious variants show incomplete penetrance and variable expressivity.

      General ClinGen Gene:IMPG2 HGNC:18362 inferred_gene_hgnc:18362 inferred_gene_source:hgnc_tag Retina GCEP
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC7219290/
  180. www.jbc.org www.jbc.org
    A Novel Tissue Inhibitor of Metalloproteinases-3 Mutation Reveals a Common Molecular Phenotype in Sorsby's Fundus Dystrophy *
    1
    1. ClingenBaseline 22 Oct 2026
      A Novel Tissue Inhibitor of Metalloproteinases-3 Mutation Reveals a Common Molecular Phenotype in Sorsby's Fundus Dystrophy

      PMID: 10854443

      Gene: TIMP3

      HGNC: 11822

      Disease: Sorsby fundus dystrophy (SFD), also known as Sorsby's fundus dystrophy, Sorsby pseudoinflammatory fundus dystrophy, or hemorrhagic macular dystrophy

      MONDO: 0007640

      InheritancePattern: Autosomal Dominant

      Prevalence: Estimated at 1 in 220,000 (PMID: 28847738)

      Penetrance: Fully penetrant, onset between the third and sixth decades of life

      General ClinGen Gene:TIMP3 HGNC:11822 inferred_gene_hgnc:11822 inferred_gene_source:hgnc_tag Retina GCEP
    Visit annotations in context

    Tags

    Annotators

    URL

    jbc.org/article/S0021-9258(19)61475-4/fulltext
  181. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    A novel homozygous nonsense mutation in CABP4 causes congenital cone-rod synaptic disorder
    1
    1. ClingenBaseline 22 Oct 2026
      A novel homozygous nonsense mutation in CABP4 causes congenital cone-rod synaptic disorder

      PMID: 19074807

      Gene: CABP4

      HGNC: 1386

      Disease: cone-rod synaptic disorder, congenital nonprogressive

      MONDO: 0012490

      InheritancePattern: autosomal recessive

      Prevalence: The prevalence of the Åland eye disease or incomplete congenital stationary night blindness phenotype was estimated at 1 in 22,000 based on a Danish male cohort, with CABP4 variants specifically responsible for 1 out of 35 cases (PMID: 28002560).

      Penetrance: Penetrance appears to be 100% among the reported individuals harboring biallelic disease-causing CABP4 variants.

      General ClinGen Gene:CABP4 HGNC:1386 inferred_gene_hgnc:1386 inferred_gene_source:hgnc_tag Retina GCEP
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/19074807/
  182. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Expression and characterization of the IPM 150 gene (IMPG1) product, a novel human photoreceptor cell-associated chondroitin-sulfate proteoglycan
    1
    1. ClingenBaseline 22 Oct 2026
      Expression and characterization of the IPM 150 gene (IMPG1) product, a novel human photoreceptor cell-associated chondroitin-sulfate proteoglycan

      PMID: 10601738

      Gene: IMPG1

      HGNC: 6055

      Disease: vitelliform macular dystrophy 4

      MONDO: 0014508

      InheritancePattern: semi-dominant

      Prevalence: Vitelliform macular dystrophy in general is estimated to have a prevalence of 1 in 5,500 (PMID: 27120116).

      Penetrance: The penetrance of the phenotype among homozygous cases appears to be complete, while heterozygous carriers of deleterious variants show incomplete penetrance and variable expressivity.

      General ClinGen Gene:IMPG1 HGNC:6055 inferred_gene_hgnc:6055 inferred_gene_source:hgnc_tag Retina GCEP
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/10601738/
  183. www.sciencedirect.com www.sciencedirect.com
    ON pathway mutations increase susceptibility to form-deprivation myopia
    1
    1. ClingenBaseline 22 Oct 2026
      ON pathway mutations increase susceptibility to form-deprivation myopia

      PMID: 26072023

      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
    Visit annotations in context

    Tags

    Annotators

    URL

    sciencedirect.com/science/article/pii/S0014483515001979
  184. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Gene Therapy in Opn1mw−/−/Opn1sw−/− Mice and Implications for Blue Cone Monochromacy Patients with Deletion Mutations
    1
    1. ClingenBaseline 22 Oct 2026
      Gene Therapy in Opn1mw−/−/Opn1sw−/− Mice and Implications for Blue Cone Monochromacy Patients with Deletion Mutations

      PMID: 35272502

      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
    Visit annotations in context

    Tags

    Annotators

    URL

    pmc.ncbi.nlm.nih.gov/articles/PMC9347391/
  185. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    A distinct vitreo-retinal dystrophy with early-onset cataract from recessive KCNJ13 mutations
    1
    1. ClingenBaseline 22 Oct 2026
      A distinct vitreo-retinal dystrophy with early-onset cataract from recessive KCNJ13 mutations

      PMID: 25475713

      Gene: KCNJ13

      HGNC: 6259

      Disease: Leber congenital amaurosis 16

      MONDO: 0013613

      InheritancePattern: autosomal recessive

      Prevalence: The overall prevalence of Leber congenital amaurosis is between 1 in 33,000 and 1 in 100,000 newborns (PMID: 10951519), while the proportion of Leber congenital amaurosis caused by KCNJ13 variants is unknown.

      Penetrance: Known disease-causing alleles appear to be completely penetrant.

      General ClinGen Gene:KCNJ13 HGNC:6259 inferred_gene_hgnc:6259 inferred_gene_source:hgnc_tag Retina GCEP
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/25475713/
  186. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Essential role of Ca2+-binding protein 4, a Cav1.4 channel regulator, in photoreceptor synaptic function
    1
    1. ClingenBaseline 22 Oct 2026
      Essential role of Ca2+-binding protein 4, a Cav1.4 channel regulator, in photoreceptor synaptic function

      PMID: 15452577

      Gene: CABP4

      HGNC: 1386

      Disease: cone-rod synaptic disorder, congenital nonprogressive

      MONDO: 0012490

      InheritancePattern: autosomal recessive

      Prevalence: The prevalence of the Åland eye disease or incomplete congenital stationary night blindness phenotype was estimated at 1 in 22,000 based on a Danish male cohort, with CABP4 variants specifically responsible for 1 out of 35 cases (PMID: 28002560).

      Penetrance: Penetrance appears to be 100% among the reported individuals harboring biallelic disease-causing CABP4 variants.

      General ClinGen Gene:CABP4 HGNC:1386 inferred_gene_hgnc:1386 inferred_gene_source:hgnc_tag Retina GCEP
    Visit annotations in context

    Tags

    Annotators

    URL

    pmc.ncbi.nlm.nih.gov/articles/PMC1352161/
  187. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Identification of a Novel Bardet-Biedl Syndrome Protein, BBS7, That Shares Structural Features with BBS1 and BBS2
    1
    1. ClingenBaseline 22 Oct 2026
      Identification of a Novel Bardet-Biedl Syndrome Protein, BBS7, That Shares Structural Features with BBS1 and BBS2

      PMID: 12567324

      Gene: BBS7

      HGNC: 18758

      Disease: Bardet-Biedl syndrome 7

      MONDO: 0014435

      InheritancePattern: autosomal recessive

      Prevalence: The prevalence of BBS7 variants among Bardet-Biedl syndrome cohorts has been reported at 4.2% (PMID: 19402160), while the prevalence of Bardet-Biedl syndrome overall has been estimated between 1 in 13,500 and 1 in 160,000 live births, depending on the population (PMID: 22713813).

      Penetrance: The penetrance of the phenotype among homozygous cases appears to be complete.

      General ClinGen Gene:BBS7 HGNC:18758 inferred_gene_hgnc:18758 inferred_gene_source:hgnc_tag Retina GCEP
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC1180240/
  188. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Osteoporosis Pseudoglioma Syndrome
    1
    1. ClingenBaseline 22 Oct 2026
      Osteoporosis Pseudoglioma Syndrome

      PMID: 33531964

      Gene: LRP5

      HGNC: 6697

      Disease: osteoporosis-pseudoglioma syndrome

      MONDO: 0009820

      InheritancePattern: autosomal recessive

      Prevalence: osteoporosis-pseudoglioma syndrome is estimated to occur in 1 out of every 2,000,000 live births.

      Penetrance: The penetrance of the phenotype among homozygous or compound heterozygous cases appears to be complete, while heterozygous carriers of deleterious variants appear to be mildly affected.

      General ClinGen Gene:LRP5 HGNC:6697 inferred_gene_hgnc:6697 inferred_gene_source:hgnc_tag Retina GCEP
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC7847108/
  189. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Identification of three novel OA1 gene mutations identified in three families misdiagnosed with congenital nystagmus and carrier status determination by real-time quantitative PCR assay
    1
    1. ClingenBaseline 22 Oct 2026
      Identification of three novel OA1 gene mutations identified in three families misdiagnosed with congenital nystagmus and carrier status determination by real-time quantitative PCR assay

      PMID: 12515581

      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
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC140306/
  190. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Phenotype in retinol deficiency due to a hereditary defect in retinol binding protein synthesis
    1
    1. ClingenBaseline 22 Oct 2026
      Phenotype in retinol deficiency due to a hereditary defect in retinol binding protein synthesis

      PMID: 9888420

      Gene: RBP4

      HGNC: 9922

      Disease: progressive retinal dystrophy due to retinol transport defect

      MONDO: 0014060

      InheritancePattern: autosomal recessive

      Prevalence: RBP4-related cases have an estimated prevalence of less than 1 in 1,000,000 (https://www.orpha.net/en/disease/detail/352718?search=&mode=name)

      Penetrance: RBP4 disease-causing variants appear to have complete penetrance in biallelic cases.

      General ClinGen Gene:RBP4 HGNC:9922 inferred_gene_hgnc:9922 inferred_gene_source:hgnc_tag Retina GCEP
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/9888420/
  191. iovs.arvojournals.org iovs.arvojournals.org
    Abnormal Vessel Formation in the Choroid of Mice Lacking Tissue Inhibitor of Metalloprotease-3
    1
    1. ClingenBaseline 22 Oct 2026
      Abnormal Vessel Formation in the Choroid of Mice Lacking Tissue Inhibitor of Metalloprotease-3

      PMID: 18408187

      Gene: TIMP3

      HGNC: 11822

      Disease: Sorsby fundus dystrophy (SFD), also known as Sorsby's fundus dystrophy, Sorsby pseudoinflammatory fundus dystrophy, or hemorrhagic macular dystrophy

      MONDO: 0007640

      InheritancePattern: Autosomal Dominant

      Prevalence: Estimated at 1 in 220,000 (PMID: 28847738)

      Penetrance: Fully penetrant, onset between the third and sixth decades of life

      General ClinGen Gene:TIMP3 HGNC:11822 inferred_gene_hgnc:11822 inferred_gene_source:hgnc_tag Retina GCEP
    Visit annotations in context

    Tags

    Annotators

    URL

    iovs.arvojournals.org/article.aspx
  192. www.nature.com www.nature.com
    CSNB1 in Chinese families associated with novel mutations in NYX
    1
    1. ClingenBaseline 22 Oct 2026
      CSNB1 in Chinese families associated with novel mutations in NYX

      PMID: 16670814

      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
    Visit annotations in context

    Tags

    Annotators

    URL

    nature.com/articles/jhg200696
  193. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Two-year progression analysis of RPE65 autosomal dominant retinitis pigmentosa
    1
    1. ClingenBaseline 22 Oct 2026
      Two-year progression analysis of RPE65 autosomal dominant retinitis pigmentosa

      PMID: 29947567

      Gene: RPE65

      HGNC: 10294

      Disease: Retinitis pigmentosa 87 with choroidal involvement

      MONDO: 0032873

      InheritancePattern: Autosomal Dominant

      Prevalence: The overall prevalence of Retinitis pigmentosa is between 1 in 3,000 and 1 in 4,000 individuals, while the proportion of Retinitis pigmentosa with a dominant mode of inheritance is estimated to be 15-35% (between 1 in 8,000 and 1 in 27,000). The prevalence of Retinitis pigmentosa 87 with choroidal involvement is considered to be much lower.

      Penetrance: Incomplete penetrance, estimated at 80%

      General ClinGen Gene:RPE65 HGNC:10294 inferred_gene_hgnc:10294 inferred_gene_source:hgnc_tag Retina GCEP
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC6314189/
  194. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Functional photoreceptor loss revealed with adaptive optics: An alternate cause of color blindness
    1
    1. ClingenBaseline 22 Oct 2026
      Functional photoreceptor loss revealed with adaptive optics: An alternate cause of color blindness

      PMID: 15148406

      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
    Visit annotations in context

    Tags

    Annotators

    URL

    pmc.ncbi.nlm.nih.gov/articles/PMC420416/
  195. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Deletion in the OA1 gene in a family with congenital X linked nystagmus
    1
    1. ClingenBaseline 22 Oct 2026
      Deletion in the OA1 gene in a family with congenital X linked nystagmus

      PMID: 11520764

      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
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC1724103/
  196. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Interphotoreceptor matrix proteoglycans IMPG1 and IMPG2 proteolyze in the SEA domain and reveal localization mutual dependency
    1
    1. ClingenBaseline 22 Oct 2026
      Interphotoreceptor matrix proteoglycans IMPG1 and IMPG2 proteolyze in the SEA domain and reveal localization mutual dependency

      PMID: 36109576

      Gene: IMPG1

      HGNC: 6055

      Disease: vitelliform macular dystrophy 4

      MONDO: 0014508

      InheritancePattern: semi-dominant

      Prevalence: Vitelliform macular dystrophy in general is estimated to have a prevalence of 1 in 5,500 (PMID: 27120116).

      Penetrance: The penetrance of the phenotype among homozygous cases appears to be complete, while heterozygous carriers of deleterious variants show incomplete penetrance and variable expressivity.

      General ClinGen Gene:IMPG1 HGNC:6055 inferred_gene_hgnc:6055 inferred_gene_source:hgnc_tag Retina GCEP
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC9478142/
  197. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Deletion of the Impg2 gene causes the degeneration of rod and cone cells in mice
    1
    1. ClingenBaseline 22 Oct 2026
      Deletion of the Impg2 gene causes the degeneration of rod and cone cells in mice

      PMID: 32242237

      Gene: IMPG1

      HGNC: 6055

      Disease: vitelliform macular dystrophy 4

      MONDO: 0014508

      InheritancePattern: semi-dominant

      Prevalence: Vitelliform macular dystrophy in general is estimated to have a prevalence of 1 in 5,500 (PMID: 27120116).

      Penetrance: The penetrance of the phenotype among homozygous cases appears to be complete, while heterozygous carriers of deleterious variants show incomplete penetrance and variable expressivity.

      General ClinGen Gene:IMPG2 HGNC:18362 inferred_gene_hgnc:18362 inferred_gene_source:hgnc_tag Retina GCEP
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/32242237/