1,647 Matching Annotations
  1. Oct 2026
  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Molecular characterization of peripherin-2 and rom-1 mutants responsible for digenic retinitis pigmentosa
    1
    1. ClingenBaseline 24 Oct 2026
      Molecular characterization of peripherin-2 and rom-1 mutants responsible for digenic retinitis pigmentosa

      PMID: 11297544

      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/11297544/
  3. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Phenotype-genotype correlation in eight patients with Finnish variant late infantile NCL (CLN5)
    1
    1. ClingenBaseline 24 Oct 2026
      Phenotype-genotype correlation in eight patients with Finnish variant late infantile NCL (CLN5)

      PMID: 10953198

      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

    pubmed.ncbi.nlm.nih.gov/10953198/
  4. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Identification and characterization of human genes encoding Hprp3p and Hprp4p, interacting components of the spliceosome
    1
    1. ClingenBaseline 24 Oct 2026
      Identification and characterization of human genes encoding Hprp3p and Hprp4p, interacting components of the spliceosome

      PMID: 9328476

      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/9328476/
  5. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Biochemical Characteristics of iPSC-Derived Dopaminergic Neurons from N370S GBA Variant Carriers with and without Parkinson’s Disease
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC10002967/
  6. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Identification and characterization of the elusive mutation causing the historical von Willebrand Disease type IIC Miami
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    pmc.ncbi.nlm.nih.gov/articles/PMC5035592/
  7. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Homozygous type 2N R854W von Willebrand factor is poorly secreted and causes a severe von Willebrand disease phenotype
    1
    1. ClingenBaseline 24 Oct 2026
      Homozygous type 2N R854W von Willebrand factor is poorly secreted and causes a severe von Willebrand disease phenotype

      PMID: 20586924

      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

    onlinelibrary.wiley.com/doi/10.1111/j.1538-7836.2010.03971.x
  8. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Intron retention resulting from a silent mutation in the VWF gene that structurally influences the 5′ splice site
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC5161009/
  9. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Pharmacokinetics, efficacy, and safety of a plasma-derived VWF/FVIII concentrate (VONCENTO) for on-demand and prophylactic treatment in patients with von Willebrand disease (SWIFT-VWD study)
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC5312726/
  10. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Long-term impact of joint bleeds in von Willebrand disease: a nested case-control study
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC5685243/
  11. www-sciencedirect-com.libproxy.lib.unc.edu www-sciencedirect-com.libproxy.lib.unc.edu
    Feasibility of the Von Willebrand disease PREVENT trial
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    www-sciencedirect-com.libproxy.lib.unc.edu/science/article/pii/S0049384817303407
  12. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Screening of female family members of von Willebrand disease patients: utility of a modified screening tool in a high‐risk population
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/full/10.1111/hae.13188
  13. www.thrombosisresearch.com www.thrombosisresearch.com
    Von Willebrand disease mutation spectrum and associated mutation mechanisms
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    thrombosisresearch.com/article/S0049-3848(17)30510-8/fulltext
  14. ashpublications-org.libproxy.lib.unc.edu ashpublications-org.libproxy.lib.unc.edu
    Alloantibodies in von Willebrand disease
    1
    1. ClingenBaseline 24 Oct 2026
      Alloantibodies in von Willebrand disease

      PMID: 29165738

      Gene: VWF

      HGNC: 12726 (type 1)

      Note: Insufficient Evidence due to lack of variant information. This paper designates variants as only "missense, deletion, etc" and lacks specific neucleotide changes. All probands with identifiable variants in this paper were from other PMIDs, which were confirmed to be previously curated or added to the list to be curated.

      ClinGen General Gene:VWF InsufficientEvidence inferred_gene_hgnc:12726 inferred_gene_source:Gene_Name ClinGen VWF
    Visit annotations in context

    Tags

    Annotators

    URL

    ashpublications-org.libproxy.lib.unc.edu/blood/article/122/5/636/32060/Alloantibodies-in-von-Willebrand-disease
  15. ashpublications-org.libproxy.lib.unc.edu ashpublications-org.libproxy.lib.unc.edu
    Characterization of W1745C and S1783A: 2 novel mutations causing defective collagen binding in the A3 domain of von Willebrand factor
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ashpublications-org.libproxy.lib.unc.edu/blood/article/114/16/3489/26287/Characterization-of-W1745C-and-S1783A-2-novel
  16. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Life-threatening subdural hematoma after aortic valve replacement in a patient with Heyde syndrome: a case report
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC5549292/
  17. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    2009
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    pmc.ncbi.nlm.nih.gov/articles/PMC7109749/pdf/1051120.pdf
  18. www-sciencedirect-com.libproxy.lib.unc.edu www-sciencedirect-com.libproxy.lib.unc.edu
    von Willebrand factor disruption and continuous-flow circulatory devices
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    www-sciencedirect-com.libproxy.lib.unc.edu/science/article/pii/S105324981731848X
  19. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Type 2N von Willebrand disease: Characterization and diagnostic difficulties
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/29115006/
  20. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Is von Willebrand disease linked to cholesteatoma aetiology?
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/28236847/
  21. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    A diagnosis of von Willebrand disease despite normal test results for factor VIII and von Willebrand factor antigen and activity
    1
    1. ClingenBaseline 24 Oct 2026
      A diagnosis of von Willebrand disease despite normal test results for factor VIII and von Willebrand factor antigen and activity Penelope Motum,  Penelope Motum Haematology, NSW Health Pathology, Liverpool Hospital, New South Wales, AustraliaSearch for more papers by this authorSarah Just,  Sarah Just Haematology, NSW Health Pathology, Liverpool Hospital, New South Wales, AustraliaSearch for more papers by this authorDiane Zebeljan,  Diane Zebeljan Haematology, NSW Health Pathology, Liverpool Hospital, New South Wales, AustraliaSearch for more papers by this authorCatherine Nicholls,  Catherine Nicholls Department of Genetic Pathology, SA Pathology, Adelaide, South Australia, AustraliaSearch for more papers by this authorGeoffrey Kershaw,  Geoffrey Kershaw Haematology, NSW Health Pathology, Royal Prince Alfred Hospital, New South Wales, AustraliaSearch for more papers by this authorSusan Oliver,  Susan Oliver Department of Haematology, Institute of Clinical Pathology and Medical Research (ICPMR), NSW Health Pathology, Westmead Hospital, Westmead, New South Wales, AustraliaSearch for more papers by this authorSoma Mohammed,  Soma Mohammed Department of Haematology, Institute of Clinical Pathology and Medical Research (ICPMR), NSW Health Pathology, Westmead Hospital, Westmead, New South Wales, AustraliaSearch for more papers by this authorEmmanuel J. Favaloro,  Corresponding Author Emmanuel J. Favaloro emmanuel.favaloro@health.nsw.gov.au orcid.org/0000-0002-2103-1661 Department of Haematology, Institute of Clinical Pathology and Medical Research (ICPMR), NSW Health Pathology, Westmead Hospital, Westmead, New South Wales, Australia Department of Haematology, Sydney Centres for Thrombosis and Haemostasis, Westmead, New South Wales, Australia Correspondence Emmanuel J. Favaloro, Department of Haematology, Institute of Clinical Pathology and Medical Research (ICPMR), Westmead Hospital, Westmead, New South Wales, 2145, Australia. Email: emmanuel.favaloro@health.nsw.gov.auSearch for more papers by this author

      PMID: 31423628

      Gene: VWF

      HGNC: 12726

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

    Tags

    Annotators

    URL

    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/10.1002/ajh.25618
  22. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    A novel VWF variant associated with type 2 von Willebrand disease in German Wirehaired Pointers and German Shorthaired Pointers
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/full/10.1111/age.12544
  23. ashpublications.org ashpublications.org
    von Willebrand factor antigen levels are associated with burden of rare nonsynonymous variants in the VWF gene
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ashpublications.org/blood/article/137/23/3277/475195/von-Willebrand-factor-antigen-levels-are
  24. pubs-rsc-org.libproxy.lib.unc.edu pubs-rsc-org.libproxy.lib.unc.edu
    Application of a strain rate gradient microfluidic device to von Willebrand's disease screening
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    pubs-rsc-org.libproxy.lib.unc.edu/en/content/articlelanding/2017/lc/c7lc00498b
  25. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    The Association of Aging With Von Willebrand Factor Levels and Bleeding Risk in Type 1 Von Willebrand Disease
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC6714664/
  26. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Enhanced Local Disorder in a Clinically Elusive von Willebrand Factor Provokes High-Affinity Platelet Clumping
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC5839150/
  27. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Management of pregnancy and emergency caesarean delivery in a patient with type IIB von Willebrand disease and severe preeclampsia: A case report and literature review
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC6038013/
  28. www-thieme-connect-com.libproxy.lib.unc.edu www-thieme-connect-com.libproxy.lib.unc.edu
    Monitoring Therapy during Treatment of von Willebrand Disease
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    www-thieme-connect-com.libproxy.lib.unc.edu/products/ejournals/html/10.1055/s-0036-1585080
  29. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Use of a thrombopoietin receptor agonist in von Willebrand disease type 2B (p.V1316M) with severe thrombocytopenia and intracranial hemorrhage
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/27885890/
  30. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Protein S gene mutation c.946C > T (p.R316C) contributed to ischemic stroke in a man with von Willebrand disease type 3 caused by two novel VWF gene mutations, c.2328delT (p.A778Lfs* 23) and c.6521G > T (p.C2174F)
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC9399824/
  31. journals.sagepub.com journals.sagepub.com
    Classification and Characterization of Hereditary Types 2A, 2B, 2C, 2D, 2E, 2M, 2N, and 2U (Unclassifiable) von Willebrand Disease - Jan Jacques Michiels, Zwi Berneman, Alain Gadisseur, Marc van der Planken, Wilfried Schroyens, Ann van de Velde, Huub van Vliet, 2006
    1
    1. ClingenBaseline 24 Oct 2026
      Classification and Characterization of Hereditary Types 2A, 2B, 2C, 2D, 2E, 2M, 2N, and 2U (Unclassifiable) von Willebrand Disease

      PMID: 17000885

      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

    journals.sagepub.com/doi/10.1177/1076029606293422
  32. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Purification of botrocetin from Bothrops jararaca venom. Analysis of the botrocetin-mediated interaction between von Willebrand factor and the human platelet membrane glycoprotein Ib-IX complex
    1
    1. ClingenBaseline 24 Oct 2026
      Purification of botrocetin from Bothrops jararaca venom. Analysis of the botrocetin-mediated interaction between von Willebrand factor and the human platelet membrane glycoprotein Ib-IX complex

      PMID: 2557900

      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/2557900/
  33. www.thieme-connect.com www.thieme-connect.com
    Characterisation of mutations and molecular studies of type 2 von Willebrand disease
    1
    1. ClingenBaseline 24 Oct 2026
      Characterisation of mutations and molecular studies of type 2 von Willebrand disease

      PMID: 23179108

      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

    thieme-connect.com/products/ejournals/abstract/10.1160/TH12-07-0475
  34. oce-ovid-com.libproxy.lib.unc.edu oce-ovid-com.libproxy.lib.unc.edu
    A novel type 2N VWF gene mutation: a case report | Ovid
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    oce-ovid-com.libproxy.lib.unc.edu/article/00001721-201811000-00010/HTML
  35. www.pnas.org www.pnas.org
    von Willebrand disease type B: a missense mutation selectively abolishes ristocetin-induced von Willebrand factor binding to platelet glycoprotein Ib.
    1
    1. ClingenBaseline 24 Oct 2026
      von Willebrand disease type B: a missense mutation selectively abolishes ristocetin-induced von Willebrand factor binding to platelet glycoprotein Ib.

      PMID: 1409710

      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

    pnas.org/content/89/20/9846
  36. www-ncbi-nlm-nih-gov.libproxy.lib.unc.edu www-ncbi-nlm-nih-gov.libproxy.lib.unc.edu
    Molecular Genetics of von Willebrand Disease in Korean Patients: Novel Variants and Limited Diagnostic Utility of Multiplex Ligation-Dependent Probe Amplification Analyses
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    www-ncbi-nlm-nih-gov.libproxy.lib.unc.edu/pmc/articles/PMC6660331/
  37. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Role of calcium in regulating the intra- and extracellular cleavage of von Willebrand factor by the protease ADAMTS13
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC5728285/
  38. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Left-Dominant Arrhythmogenic Cardiomyopathy in a Young Athlete: Silent Danger on the Pitch
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    pmc.ncbi.nlm.nih.gov/articles/PMC13379856/
  39. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Diabetes mellitus activates fetal gene program and intensifies cardiac remodeling and oxidative stress in aged spontaneously hypertensive rats
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC4015448/
  40. link-springer-com.libproxy.lib.unc.edu link-springer-com.libproxy.lib.unc.edu
    A novel de novo mutation of β-cardiac myosin heavy chain gene found in a twelve-year-old boy with hypertrophic cardiomyopathy
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    link-springer-com.libproxy.lib.unc.edu/article/10.1007/s12041-014-0414-8
  41. meridian.allenpress.com meridian.allenpress.com
    Confirmation of Cause and Manner of Death Via a Comprehensive Cardiac Autopsy Including Whole Exome Next-Generation Sequencing
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    meridian.allenpress.com/aplm/article/138/8/1083/132547/Confirmation-of-Cause-and-Manner-of-Death-Via-a
  42. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Nuclear receptor/microRNA circuitry links muscle fiber type to energy metabolism
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC3668841/
  43. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Identification of novel mutations including a double mutation in patients with inherited cardiomyopathy by a targeted sequencing approach using the Ion Torrent PGM system
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    pmc.ncbi.nlm.nih.gov/articles/PMC4867886/
  44. www.sciencedirect.com www.sciencedirect.com
    Detection of a large duplication mutation in the myosin-binding protein C3 gene in a case of hypertrophic cardiomyopathy
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    sciencedirect.com/science/article/pii/S0378111913007828
  45. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    A novel ACTC1 mutation in a young boy with left ventricular noncompaction and arrhythmias
    7
    Visit annotations in context

    Tags

    Annotators

    URL

    pmc.ncbi.nlm.nih.gov/articles/PMC5412645/
  46. www.nature.com www.nature.com
    A feline orthologue of the human MYH7 c.5647G>A (p.(Glu1883Lys)) variant causes hypertrophic cardiomyopathy in a Domestic Shorthair cat
    1
    1. ClingenBaseline 24 Oct 2026
      A feline orthologue of the human MYH7 c.5647G>A (p.(Glu1883Lys)) variant causes hypertrophic cardiomyopathy in a Domestic Shorthair cat

      PMID: 31164718

      Gene: MYH7

      AnimalModel: detection of feline orthologue of NM_000257.2(MYH7):c.5647G>A (p.Glu1883Lys) (ClinVarID: 14121), which was determined to cause HCM in domestic short hair cat

      ClinVar: 14121, https://www.ncbi.nlm.nih.gov/clinvar/variation/14121/

      gnomAD: 0.00003185, https://gnomad.broadinstitute.org/variant/14-23883224-C-T

      ClinGen General MYH7 ExperimentalAssay ClinVarID:14121 inferred_gene_hgnc:7577 inferred_gene_source:RefSeq Cardiomyopathy Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    nature.com/articles/s41431-019-0431-4
  47. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Rescue of heart lipoprotein lipase-knockout mice confirms a role for triglyceride in optimal heart metabolism and function
    1
    1. ClingenBaseline 24 Oct 2026
      Rescue of heart lipoprotein lipase-knockout mice confirms a role for triglyceride in optimal heart metabolism and function

      PMID: 24085031

      Gene: MYH7

      HGNC: 7577

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

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

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC3882371/
  48. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Epigenetic Regulation of the Electrophysiological Phenotype of Human Embryonic Stem Cell-Derived Ventricular Cardiomyocytes: Insights for Driven Maturation and Hypertrophic Growth
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC3780424/
  49. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Unique Transcriptional Profile of Sustained Ligand-Activated Preconditioning in Pre- and Post-Ischemic Myocardium
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC3749099/
  50. www.ahajournals.org www.ahajournals.org
    Multiple Gene Variants in Hypertrophic Cardiomyopathy in the Era of Next-Generation Sequencing
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ahajournals.org/doi/10.1161/CIRCGENETICS.116.001666
  51. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Pilot study identifying myosin heavy chain 7, desmin, insulin-like growth factor 7, and annexin A2 as circulating biomarkers of human heart failure
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC3735469/
  52. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Cardiomyopathy Mutations in the Tail of β-Cardiac Myosin Modify the Coiled-coil Structure and Affect Integration into Thick Filaments in Muscle Sarcomeres in Adult Cardiomyocytes
    1
    1. ClingenBaseline 24 Oct 2026
      Cardiomyopathy Mutations in the Tail of β-Cardiac Myosin Modify the Coiled-coil Structure and Affect Integration into Thick Filaments in Muscle Sarcomeres in Adult Cardiomyocytes*

      PMID: 24047955

      Gene: MYH7

      HGNC: 7577

      "It is unclear why mutations in the filament-forming tail of myosin heavy chain (MHC) cause hypertrophic or dilated cardiomyopathy as these mutations should not directly affect contraction. To investigate this, we first investigated the impact of five hypertrophic cardiomyopathy-causing (N1327K, E1356K, R1382W, E1555K, and R1768K) and one dilated cardiomyopathy-causing (R1500W) tail mutations on their ability to incorporate into muscle sarcomeres in vivo."

      Results suggest that small effects of mutations on helicity translate into a reduced ability to incorporate into sarcomeres, which may elicit compensatory hypertrophy.

      HGNC:7577 Gene:MYH7 General 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/PMC3814791/
  53. www.onlinecjc.ca www.onlinecjc.ca
    Nonsense Mutations in BAG3 are Associated With Early-Onset Dilated Cardiomyopathy in French Canadians
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    onlinecjc.ca/article/S0828-282X(14)01445-7/fulltext
  54. www.ahajournals.org www.ahajournals.org
    Variant Interpretation for Dilated Cardiomyopathy
    1
    1. ClingenBaseline 24 Oct 2026
      Refinement of the American College of Medical Genetics and Genomics/ClinGen Guidelines for the DCM Precision Medicine Study

      PMID: 32160020

      Gene: MYH7

      HGNC: 7577

      The goal of this study was to adjust the framework for interpreting MHY7 variants. In 97 probands and 2059 variants, they found that "15/97 (15.5%) probands have likely pathogenic/P variants."

      Variant information found in Table 3.

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

    Tags

    Annotators

    URL

    ahajournals.org/doi/10.1161/CIRCGEN.119.002480
  55. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Laing early-onset distal myopathy with subsarcolemmal hyaline bodies caused by a novel variant in the MYH7 gene
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC7315894/
  56. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    pmc.ncbi.nlm.nih.gov/articles/PMC10029015/
  57. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC6737665/
  58. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Selective screening for lysosomal storage disorders in a large cohort of minorities of African descent shows high prevalence rates and novel variants
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC8100401/
  59. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Algorithm for the Early Diagnosis and Treatment of Patients with Cross Reactive Immunologic Material-Negative Classic Infantile Pompe Disease: A Step towards Improving the Efficacy of ERT
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC3692419/
  60. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Genetic cause of heterogeneous inherited myopathies in a cohort of Greek patients
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC7711282/
  61. 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
    Visit annotations in context

    Tags

    Annotators

    URL

    www-nature-com.libproxy.lib.unc.edu/articles/s10038-019-0603-7
  62. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Post-mortem diagnosis of Pompe disease by exome sequencing in a Moroccan family: a case report
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC6205784/
  63. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Infantile onset Pompe disease presenting with non-immune hydrops fetalis
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC6713818/
  64. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Outcome of Patients with Classical Infantile Pompe Disease Receiving Enzyme Replacement Therapy in Germany
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC4375117/
  65. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Bright tongue sign in patients with late-onset Pompe disease
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC6765469/
  66. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Correlation Between Respiratory Accessory Muscles and Diaphragm Pillars MRI and Pulmonary Function Test in Late-Onset Pompe Disease Patients
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC7957052/
  67. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Different biochemical expression pattern of platelet surface glycoproteins suggests molecular diversity of Glanzmann's thrombasthenia in Iran. - PubMed - NCBI
    1
    1. ClingenBaseline 24 Oct 2026
      Different biochemical expression pattern of platelet surface glycoproteins suggests molecular diversity of Glanzmann's thrombasthenia in Iran.

      PMID: 23912132

      Genes: ITGA2B and ITGB3

      HGNC: 6138 and 6156

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

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

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

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pubmed/23912132
  68. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    c:/ncn/bico805
    1
    1. ClingenBaseline 24 Oct 2026
      Primary arrest of circulating platelets on collagen involves phosphorylationof Syk, cortactin and focal adhesion kinase : studies under flow conditions

      PMID: 11988077

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      NoEvidence: This article does not mention GT probands with variants in ITGA2B and/or ITGB3 therefore there is insufficient evidence. However, the present study used blood samples from 2 patients with GT; therefore, the gene name and HGNC are included in this annotation

      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/PMC1222546/pdf/11988077.pdf
  69. watermark.silverchair.com watermark.silverchair.com
    2-12-2183.pdf
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    watermark.silverchair.com/2-12-2183.pdf
  70. www.sciencedirect.com www.sciencedirect.com
    Improving selection of αIIbβ3-binding phage antibodies with increased reactivity derived from immunized donors
    1
    1. ClingenBaseline 24 Oct 2026
      Improving selection of αIIbβ3-binding phage antibodies with increased reactivity derived from immunized donors

      PMID: 14499243

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This mentions GT case reports; 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
    Visit annotations in context

    Tags

    Annotators

    URL

    sciencedirect.com/science/article/pii/S1521661603001438
  71. Local file Local file
    Platelets with 10% of the normal amount of glycoprotein VI have an impaired response to collagen that results in a mild bleeding tendency
    1
    1. ClingenBaseline 24 Oct 2026
      British Journal of HaematoJogy. 1995. 89. 124-130 Platelets with 10% of the normal amount of glycoprotein VI have an impaired response to collagen that results in a mild bleeding tendency

      PMID: 7530476

      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

  72. reader.elsevier.com reader.elsevier.com
    Modulation of clinical phenotype of Glanzmann's thrombasthenia by thrombogenic mutations
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    reader.elsevier.com/reader/sd/pii/S0009898109000825
  73. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Human platelet alloantigen polymorphism in Glanzmann's thrombasthenia and its impact on the severity of the disease
    1
    1. ClingenBaseline 24 Oct 2026
      Human platelet alloantigen polymorphism in Glanzmann's thrombasthenia and its impact on the severity of the disease Kanjaksha Ghosh Institute of Immunohematology (ICMR), KEM Hospital, Parel, Mumbai, IndiaSearch for more papers by this author Bipin Kulkarni Institute of Immunohematology (ICMR), KEM Hospital, Parel, Mumbai, IndiaSearch for more papers by this author Sona Nair Institute of Immunohematology (ICMR), KEM Hospital, Parel, Mumbai, IndiaSearch for more papers by this author Shrimati Shetty Institute of Immunohematology (ICMR), KEM Hospital, Parel, Mumbai, IndiaSearch for more papers by this author Dipika Mohanty Institute of Immunohematology (ICMR), KEM Hospital, Parel, Mumbai, IndiaSearch for more papers by this author

      PMID: 12406067

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This article does not mention variants in ITGA2B and/or ITGB3 in the probands 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

    onlinelibrary.wiley.com/doi/full/10.1046/j.1365-2141.2002.03864.x
  74. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    C560Rβ3 caused platelet integrin αIIbβ3 to Bind Fibrinogen Continuously yet Resulted in a Severe Bleeding Syndrome and Increased Murine Mortality
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC3702628/
  75. Local file Local file
    Integrins on rat osteoclasts: Characterization of two monoclonal antibodies (F4 and F11) to rat [beta]3
    1

    Tags

    Annotators

  76. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Effects of a novel low volume resuscitation solutions on coagulation and platelet function
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC6493729/pdf/pone.0215386.pdf
  77. www.tandfonline.com www.tandfonline.com
    Mutations in the 3 gene giving rise to type I Glanzmann thrombasthenia in two families in Portugal.pdf
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    tandfonline.com/doi/pdf/10.1080/0953710032000158754
  78. reader.elsevier.com reader.elsevier.com
    PII: S0945-053X(00)00066-4
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    reader.elsevier.com/reader/sd/pii/S0945053X00000664
  79. onlinelibrary.wiley.com onlinelibrary.wiley.com
    A novel (288delC) mutation in exon 2 of GPIIb associated with type I Glanzmann's thrombasthenia
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    onlinelibrary.wiley.com/doi/full/10.1111/j.1365-2141.2000.02336.x
  80. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Secondary prophylaxis with warfarin for recurrent thrombosis in a patient with Glanzmann thrombasthenia and F5 G1691A
    1
    1. ClingenBaseline 24 Oct 2026
      Secondary prophylaxis with warfarin for recurrent thrombosis in a patient with Glanzmann thrombasthenia and F5 G1691A

      PMID: 21848888

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This article mentions a Glanzmann thrombasthenia patient; however, no variants in ITGA2B and/or ITGB3 are mentioned

      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

    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/full/10.1111/j.1365-2141.2011.08821.x
  81. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Glanzmann thrombasthenia
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC1475837/
  82. link.springer.com link.springer.com
    A novel ELISA for diagnosis of Glanzmann’s thrombasthenia and the heterozygote carriers
    1
    1. ClingenBaseline 24 Oct 2026
      A novel ELISA for diagnosis of Glanzmann’s thrombasthenia and the heterozygote carriers

      PMID: 22183252

      Gene: ITGA2B and ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This article mentions variants in 10 GT patients; however, it does not specify each case/proband with their gender/age/ethnicity and bleeding phenotypes.

      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

    link.springer.com/article/10.1007/s00277-011-1390-1
  83. www.sciencedirect.com www.sciencedirect.com
    Missed at first Glanz: Glanzmann thrombasthenia initially misdiagnosed as Von Willebrand Disease
    1
    1. ClingenBaseline 24 Oct 2026
      Missed at first Glanz: Glanzmann thrombasthenia initially misdiagnosed as Von Willebrand Disease

      PMID: 30551951

      Gene: ITGA2B and/or ITGB3 (Patient has GT; therefore, these genes may be involved)

      HGNC: 6138 and 6156

      InsufficientEvidence: Proband is presented in this article with GT; however, no variant information is provided 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

    sciencedirect.com/science/article/pii/S1473050218303458
  84. Local file Local file
    Autoimmune thrombocytopenic purpura (AITP) and acquired thrombasthenia due to autoantibodies to GP IIb-IIIa in a patient with an unusual platelet membrane glycoprotein composition
    1
    1. ClingenBaseline 24 Oct 2026
      Autoimmune Thrombocytopenic Purpura (AITP) andAcquired Thrombasthenia Due to Autoantibodies to GPIIb-IIIa in a Patient With an Unusual Platelet MembraneGlycoprotein Composition

      PMID: 9462551

      Gene: ITGA2B and ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This article mentions a case report of a patient with thrombocytopenia; however, there is no mention of this proband harboring variants in ITGA2B and/or ITGB3

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

    Tags

    Annotators

  85. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    The use of recombinant factor VIIa in a patient with severe Glanzmann's thrombasthenia to facilitate insertion of a Port-a-Cath. - PubMed - NCBI
    1
    1. ClingenBaseline 24 Oct 2026
      The use of recombinant factor VIIa in a patient with severe Glanzmann's thrombasthenia to facilitate insertion of a Port-a-Cath.

      PMID: 10695773

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This article mentions a proband with GT; however, no variants in ITGA2B and/or ITGB3 were mentioned in this individual therefore there is insufficient evidence

      Note: Able to get PDF of article; however, was not able to use Hypothes.is on the PDF

      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/10695773
  86. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    A new multiplex PCR and conformation‐sensitive gel electrophoresis strategy for mutation detection in the platelet glycoprotein αIIb and β3 genes
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/full/10.1111/j.1538-7836.2006.02302.x
  87. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Two Human Antibodies Reacting With Different Epitopes on Integrin Beta 3 of Platelets and Endothelial Cells
    1
    1. ClingenBaseline 24 Oct 2026
      Two Human Antibodies Reacting With Different Epitopes on Integrin Beta 3 of Platelets and Endothelial Cells

      PMID: 7517865

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This mentions a Glanzmann thrombasthenia patient (case report); 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
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/7517865-two-human-antibodies-reacting-with-different-epitopes-on-integrin-beta-3-of-platelets-and-endothelial-cells/
  88. Local file Local file
    Novel and recurrent mutations of ITGA2B and ITGB3 genes in Korean patients with Glanzmann thrombasthenia
    1

    Tags

    Annotators

  89. onlinelibrary-wiley-com.dartmouth.idm.oclc.org onlinelibrary-wiley-com.dartmouth.idm.oclc.org
    Two homozygous missense mutations in ITGB3 gene as a cause of Glanzmann Thrombasthenia in four consanguineous Pakistani pedigrees
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    onlinelibrary-wiley-com.dartmouth.idm.oclc.org/doi/pdfdirect/10.1111/ijlh.13266
  90. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Severe Juvenile Vaginal Bleeding Due to Glanzmann's Thrombasthenia: Case Report and Review of the Literature
    1
    1. ClingenBaseline 24 Oct 2026
      Severe Juvenile Vaginal Bleeding Due to Glanzmann's Thrombasthenia: Case Report and Review of the Literature

      PMID: 9495374

      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
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/9495374-severe-juvenile-vaginal-bleeding-due-to-glanzmanns-thrombasthenia-case-report-and-review-of-the-literature/
  91. Local file Local file
    trf_04275.fm
    1

    Tags

    Annotators

  92. pdfs.semanticscholar.org pdfs.semanticscholar.org
    Nonsense Mutation in Exon-19 of GPIIb Associated with Thrombasthenic Phenotype. Failure of GPIIb(Δ597-1008) to Form Stable Complexes with GPIIIa
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    pdfs.semanticscholar.org/5474/4065cccc13940442423542836c521b0758bf.pdf
  93. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Sustained engraftment and resolution of bleeding phenotype after unrelated cord blood hematopoietic stem cell transplantation for severe glanzmann ... - PubMed - NCBI
    1
    1. ClingenBaseline 24 Oct 2026
      Sustained engraftment and resolution of bleeding phenotype after unrelated cord blood hematopoietic stem cell transplantation for severe glanzmann thrombasthenia.

      PMID: 19648793

      Genes: ITGA2B and/or ITBG3

      HGNC: 6138 and 6156

      InsufficientEvidence: This article mentions an individual with GT; however, there is no mention of variants in ITGA2B and/or ITGB3 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/19648793
  94. onlinelibrary.wiley.com onlinelibrary.wiley.com
    The effect of platelets on fibrin gel structure formed in the presence of recombinant factor VIIa in hemophilia plasma and in plasma from a patient with Glanzmann thrombasthenia
    1
    1. ClingenBaseline 24 Oct 2026
      The effect of platelets on fibrin gel structure formed in the presence of recombinant factor VIIa in hemophilia plasma and in plasma from a patient with Glanzmann thrombasthenia

      PMID: 15670032

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This article mentions a patient with GT; however, the patient does not have variants in ITGA2B and/or ITGB3

      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

    onlinelibrary.wiley.com/doi/full/10.1111/j.1538-7836.2005.01127.x
  95. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    2267.tif
    1
    1. ClingenBaseline 24 Oct 2026
      Further Characterization of the Thrombasthenia-related Idiotype OG. Antiidiotype Defines a Novel Epitope(s) Shared by Fibrinogen BE Chain, Vitronectin, and yon Willebrand Factor and Required for Binding to/33

      PMID: 7525851

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

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

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

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC2191764/pdf/je18062259.pdf
  96. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    jcinvest00058-0261.pdf
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC295181/pdf/jcinvest00058-0261.pdf
  97. ashpublications.org ashpublications.org
    A naturally occurring Tyr143HisαIIb mutation abolishes αIIbβ3 function for soluble ligands but retains its ability for mediating cell adhesion and clot retraction: comparison with other mutations causing ligand-binding defects
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ashpublications.org/blood/article/101/9/3485/105862/A-naturally-occurring-Tyr143His-IIb-mutation
  98. journals.lww.com journals.lww.com
    Molecular genetics and transfusion management in a child... : Blood Coagulation & Fibrinolysis
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    journals.lww.com/bloodcoagulation/fulltext/2020/03000/a_novel_missense_mutation_in_f9_gene_causes.2.aspx
  99. Local file Local file
    Identification of a nonsense mutation at amino acid 584–Arginine of platelet glycoprotein IIb in patients with type I Glanzmann thrombasthenia
    1

    Tags

    Annotators

  100. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Study of the Relationship between HPA-1 and HPA-5 Gene Polymorphisms and Refractory to Platelet Therapy and Recombinant Factor VII in Glanzmann Thrombasthenia Patients in Southeast of Iran
    1
    1. ClingenBaseline 24 Oct 2026
      Study of the Relationship between HPA-1 and HPA-5 Gene Polymorphisms and Refractory to Platelet Therapy and Recombinant Factor VII in Glanzmann Thrombasthenia Patients in Southeast of Iran

      PMID: 29951177

      Gene: ITGA2B and ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: Article mentions Glanzmann thrombasthenia probands; however, no variants associated with patients therefore 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/PMC6018251/
  101. Local file Local file
    Glanzmann thrombasthenia and Bernard–Soulier syndrome in south Iran
    1
    1. ClingenBaseline 24 Oct 2026
      Glanzmann thrombasthenia and Bernard–Souliersyndrome in south Iran

      PMID: 16178914

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This article mentions various probands with GT; however, there are no mentioned variants in ITGA2B and/or ITGB3, 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

  102. Local file Local file
    Untitled document
    1
    1. ClingenBaseline 24 Oct 2026
      Open aortic valve replacement in a patient with Glanzmann’sthrombasthenia: a multidisciplinary strategy to minimizeperioperative bleeding

      PMID: 23710629

      Genes: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: Mention of proband with Glanzmann thrombasthenia however no variants in the proband are mentioned for ITGA2B and ITGB3

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

    Tags

    Annotators

  103. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Cytoskeletal perturbation leads to platelet dysfunction and thrombocytopenia in variant forms of Glanzmann thrombasthenia
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC4697891/pdf/1010046.pdf
  104. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    An αIIb mutation in patients with Glanzmann thrombasthenia located in the N‐terminus of blade 1 of the β‐propeller (Asn2Asp) disrupts a calcium binding site in blade 6
    1
    1. ClingenBaseline 24 Oct 2026
      An αIIb mutation in patients with Glanzmann thrombasthenia located in the N‐terminus of blade 1 of the β‐propeller (Asn2Asp) disrupts a calcium binding site in blade 6

      PMID: 21029361

      Gene: ITGA2B

      HGNC: 6138

      Note: Although article mention 4 probands being studied, the caption under Fig 1 with the pedigree states, "Shown are three of the four homozygous patients (lanes 2, 4 and 6), heterozygotes" therefore the 4th proband is not mentioned

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

    Tags

    Annotators

    URL

    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/full/10.1111/j.1538-7836.2010.04087.x
  105. www.thieme-connect.com www.thieme-connect.com
    Glanzmann’s Thrombasthenia: Identification of 19 New Mutations in 30 Patients
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    thieme-connect.com/products/ejournals/pdf/10.1055/s-0037-1613129.pdf
  106. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    pnas01525-0544.pdf
    1
    1. ClingenBaseline 24 Oct 2026
      Identificationofafunctionallyimportantsequenceinthecytoplasmictailofintegrinf33byusingcell-permeablepeptideanalogs

      PMID: 8876221

      Gene: ITGB3

      HGNC: 6156

      InsufficientEvidence: This article mentions variants in ITGB3; however, there are no Glanzmann thrombasthenia patients mentioned harboring these variants; therefore, there is insufficient evidence

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

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC38142/pdf/pnas01525-0544.pdf
  107. ashpublications.org ashpublications.org
    Labeling of the Internal Pool of GP IIb-IIIa in Platelets by c7E3 Fab Fragments (abciximab): Flow and Endocytic Mechanisms Contribute to the Transport
    1
    1. ClingenBaseline 24 Oct 2026
      Labeling of the Internal Pool of GP IIb-IIIa in Platelets by c7E3 Fab Fragments (abciximab): Flow and Endocytic Mechanisms Contribute to the Transport

      PMID: 10029591

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This article mentions a case report of a GT patient in another article; however, this article does not specifically mention any GT case reports

      PreviouslyPublished: PMID: 2180491 and PMID:

      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/93/5/1622/247865/Labeling-of-the-Internal-Pool-of-GP-IIb-IIIa-in
  108. link.springer.com link.springer.com
    Glanzmann thrombasthenia associated with a 21-amino acid deletion (Leu817-Gln837) in glycoprotein IIb due to abnormal splicing in exon 25
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    link.springer.com/content/pdf/10.1532/IJH97.04001.pdf
  109. Local file Local file
    Jackson_et_al-2017-European_Journal_of_Biochemistry.pdf
    1

    Tags

    Annotators

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

      PMID: 1385445

      Gene: ITGA2B and ITGB3

      HGNC: 6138 and 6156

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

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

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC2289696/pdf/jc1194905.pdf
  111. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Human endoglin as a potential new partner involved in platelet–endothelium interactions
    1
    1. ClingenBaseline 24 Oct 2026
      Human endoglin as a potential new partner involved in platelet–endothelium interactions

      PMID: 29080903

      Gene: ITGA2B and ITGB3

      HGNC: 6138 and 6156

      NoEvidence: No mention of patients with Glanzmann thrombasthenia or variants in probands. This article is about endoglin, an adhesion molecule involved in the interaction between endothelial cells and platelets through intigren recognition

      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/PMC5843676/
  112. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    αIIbβ3 variants defined by next-generation sequencing: Predicting variants likely to cause Glanzmann thrombasthenia
    1
    1. ClingenBaseline 24 Oct 2026
      αIIbβ3 variants defined by next-generation sequencing: Predicting variants likely to cause Glanzmann thrombasthenia

      PMID: 25827233

      Gene: ITGA2B and ITGB3

      HGNC: 6138 and 6156, respectively

      InsufficientEvidence: This article analyzed missense variants in the integrin αIIbβ3 receptor subunit genes ITGA2B and ITGB3 identified by WES comprising around 32,000 alleles from 16,108 individuals. There is no specific tie between variants and probands; therefore, there is insufficient evidence

      ClinGen General InsufficientEvidence ITGA2B Gene: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/PMC4403182/
  113. www.jbc.org www.jbc.org
    19248.full.pdf
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    jbc.org/content/272/31/19248.full.pdf
  114. link.springer.com link.springer.com
    Diagnosis of disorders of platelet function by flow cytometry
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    link.springer.com/content/pdf/10.1007/BF02886884.pdf
  115. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Glanzmann Thrombasthenia: State of the Art and Future Directions
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC4011384/
  116. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    A genetic analysis of integrin function: Glanzmann thrombasthenia in vitro
    1
    1. ClingenBaseline 24 Oct 2026
      A genetic analysis of integrin function: Glanzmannthrombastheniain vitro

      PMID: 9050889

      Gene: ITGA2B and ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This article mentions ITGA2B/ITGB3 variants and has experimental evidence; however, no GT cases reports are mentioned here

      Note: Previously published articles are mentioned here, they have been tagged

      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/PMC20027/pdf/pq001973.pdf
  117. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Successful unrelated donor cord blood transplantation for Glanzmann’s thrombasthenia
    1
    1. ClingenBaseline 24 Oct 2026
      Successful unrelated donor cord blood transplantation for Glanzmann’s thrombasthenia Carrie L. Kitko Department of Pediatrics and Internal Medicine, Blood and Marrow Transplant Program, University of Michigan, Ann Arbor, MISearch for more papers by this author John E. Levine Department of Pediatrics and Internal Medicine, Blood and Marrow Transplant Program, University of Michigan, Ann Arbor, MISearch for more papers by this author Dana C. Matthews Department of Pediatrics, University of Washington, Seattle, WASearch for more papers by this author Paul A. Carpenter Department of Pediatrics, University of Washington, Seattle, WA Fred Hutchinson Cancer Research Center, Seattle, WA, USASearch for more papers by this author

      PMID: 19849809

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

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

      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

    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/full/10.1111/j.1399-3046.2009.01251.x
  118. www.researchgate.net www.researchgate.net
    untitled
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    researchgate.net/profile/Kirstin_Sandrock/publication/224708381_Homozygous_Point_Mutations_in_Platelet_Glycoprotein_ITGA2B_Gene_as_Cause_of_Glanzmann_Thrombasthenia_in_2_Families/links/5492a6940cf225673b3e0617.pdf
  119. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly
    1
    1. ClingenBaseline 24 Oct 2026
      Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly

      PMID: 28851564

      Gene: RAB39B

      Disease: early-onset parkinsonism-intellectual disability syndrome

      MonDO: MONDO:0010709

      Notes: The family reported has a phenotype of ID and autism. Parkinson disease or clinical features of Parkinsonism are not noted in any patients. Proband may be scored upon expert review.

      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/PMC5679329/
  120. www.degruyter.com www.degruyter.com
    Genetic analysis of three families with X-linked dominant hypophosphatemic rickets
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    degruyter.com/view/j/jpem.2018.31.issue-7/jpem-2017-0451/jpem-2017-0451.xml
  121. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Mucopolysaccharidosis IVA: Diagnosis, Treatment, and Management
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC7073202/
  122. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Mutation-Specific Phenotypes in hiPSC-Derived Cardiomyocytes Carrying Either Myosin-Binding Protein C Or α-Tropomyosin Mutation for Hypertrophic Cardiomyopathy
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC4707351/
  123. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Expanding the understanding of telomere biology disorder with reports from two families harboring variants in ZCCHC8 and TERC
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/full/10.1111/cge.14534
  124. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    H Syndrome: A Case Report and Review of Literature
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC5838761/
  125. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC6180571/
  126. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations
    1
    1. ClingenBaseline 24 Oct 2026
      Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations

      PMID:

      Gene: OPA1

      Disease: hereditary optic neuropathy

      980 patients in this study with suspected hereditary optic neuropathies were evaluated by searching for the ten primary LHON-causing mtDNA mutations and examining the entire coding sequences of the OPA1 and OPA3 genes. 295 had variants in OPA1; however the exact count for this variant was not provided and neither was any additional phenotypic information.

      ClinGen General OPA1 InsufficientEvidence Variant:1800C>G CAID:CA10575554 inferred_gene_hgnc:8140 inferred_gene_source:CAID UNC Biocuration Core
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/19319978/
  127. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    GALNS mutations in Indian patients with mucopolysaccharidosis IVA
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/full/10.1002/ajmg.a.36735
  128. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC9291100/
  129. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Case Report: Diagnosis of Mucopolysaccharidosis Type IVA With Compound Heterozygous Galactosamine-6 Sulfatase Variants and Biopsy of Replaced Femoral Heads
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC9289150/
  130. dev.biologists.org dev.biologists.org
    ArhGEF18 regulates RhoA-Rock2 signaling to maintain neuro-epithelial apico-basal polarity and proliferation
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    dev.biologists.org/content/140/13/2787
  131. www-ncbi-nlm-nih-gov.libproxy.lib.unc.edu www-ncbi-nlm-nih-gov.libproxy.lib.unc.edu
    Syndrome complex of bone marrow failure and pulmonary fibrosis predicts germline defects in telomerase
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    www-ncbi-nlm-nih-gov.libproxy.lib.unc.edu/pmc/articles/PMC3110022/
  132. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Canine GM2-Gangliosidosis Sandhoff Disease Associated with a 3-Base Pair Deletion in the HEXB Gene
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/29106755/
  133. link.springer.com link.springer.com
    Late-Onset Combined Immunodeficiency with Refractory CMV Disease due to ICOSL Deficiency
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    link.springer.com/article/10.1007/s10875-021-01162-9
  134. www.sciencedirect.com www.sciencedirect.com
    Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    sciencedirect.com/science/article/pii/S0002929716305407
  135. academic.oup.com academic.oup.com
    Mouse model of N-acetylgalactosamine-6-sulfate sulfatase deficiency (Galns−/−) produced by targeted disruption of the gene defective in Morquio A disease
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    academic.oup.com/hmg/article/12/24/3349/557862
  136. www-sciencedirect-com.libproxy.lib.unc.edu www-sciencedirect-com.libproxy.lib.unc.edu
    Conditional disruption of hepatic carbamoyl phosphate synthetase 1 in mice results in hyperammonemia without orotic aciduria and can be corrected by liver-directed gene therapy
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    www-sciencedirect-com.libproxy.lib.unc.edu/science/article/pii/S1096719218300593
  137. www-sciencedirect-com.libproxy.lib.unc.edu www-sciencedirect-com.libproxy.lib.unc.edu
    Molecular genetic assay of mucopolysaccharidosis IVA in South China
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    www-sciencedirect-com.libproxy.lib.unc.edu/science/article/pii/S0378111913011724
  138. www-sciencedirect-com.libproxy.lib.unc.edu www-sciencedirect-com.libproxy.lib.unc.edu
    H syndrome: The first 79 patients
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    www-sciencedirect-com.libproxy.lib.unc.edu/science/article/pii/S0190962213009705
  139. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Secretion of wild-type factor IX upon readthrough over F9 pre-peptide nonsense mutations causing hemophilia B
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/29388273/
  140. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Missense mutations at ALA-10 in the factor IX propeptide: an insignificant variant in normal life but a decisive cause of bleeding during oral anticoagulant therapy
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/pdf/10.1046/j.1365-2141.1997.2213036.x
  141. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    First report on UK database of haemophilia B mutations and pedigrees. UK Haemophilia Centres
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/8091381/
  142. www-sciencedirect-com.libproxy.lib.unc.edu www-sciencedirect-com.libproxy.lib.unc.edu
    A recoded view on the F9 p.Cys178Ter pathogenic mechanism
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    www-sciencedirect-com.libproxy.lib.unc.edu/science/article/pii/S0049384820300256
  143. ashpublications-org.libproxy.lib.unc.edu ashpublications-org.libproxy.lib.unc.edu
    Genetic determinants of VWF clearance and FVIII binding modify FVIII pharmacokinetics in pediatric hemophilia A patients
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ashpublications-org.libproxy.lib.unc.edu/blood/article/134/11/880/273874/Genetic-determinants-of-VWF-clearance-and-FVIII
  144. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Profil du facteur Von Willebrand dans la grossesse: étude descriptive chez 390 femmes enceintes au Maroc
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC6691299/
  145. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Identification of mutations in the F9 gene including exon deletion by multiplex ligation-dependent probe amplification in 33 unrelated Korean patients with haemophilia B
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/10.1111/j.1365-2516.2008.01796.x
  146. www-thieme-connect-de.libproxy.lib.unc.edu www-thieme-connect-de.libproxy.lib.unc.edu
    Haemophilia A mutations in patients with non-severe phenotype associated with a discrepancy between one-stage and chromogenic factor VIII activity assays
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    www-thieme-connect-de.libproxy.lib.unc.edu/products/ejournals/pdf/10.1160/TH13-08-0690.pdf
  147. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Extended half‐life rFIX in major surgery—How to improve clinical practice: An intraindividual comparison
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC7069879/
  148. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Assay discrepancy in mild haemophilia A due to a factor VIII missense mutation (Asn694Ile) in a large Danish family
    1
    1. ClingenBaseline 23 Oct 2026
      Assay discrepancy in mild haemophilia A due to a factor VIII missense mutation (Asn694Ile) in a large Danish family R. Schwaab, Institute for Experimental Haematology and Transfusion Medicine, Sigmund-Freud-Str. 25, 53105 Bonn, Germany,Search for more papers by this authorJ. Oldenburg, Institute for Experimental Haematology and Transfusion Medicine, Sigmund-Freud-Str. 25, 53105 Bonn, Germany, Department of Human Genetics, Biozentrum, Am Hubland, 97074 Würzburg, Germany,Search for more papers by this authorG. Kemball-Cook, Haemostasis Research Group, MRC Clinical Sciences Centre, Imperial College Medical School, Hammersmith Hospital, Du Cane Road, London W12 0NN, UK, andSearch for more papers by this authorT. Albert, Institute for Experimental Haematology and Transfusion Medicine, Sigmund-Freud-Str. 25, 53105 Bonn, Germany,Search for more papers by this authorC. Juhler, University Hospital Skejby, Department of Clinical Immunology, Centre for Haemophilia and Thrombosis, DK-8200 Aarhus N, Denmark Search for more papers by this authorP. Hanfland, Institute for Experimental Haematology and Transfusion Medicine, Sigmund-Freud-Str. 25, 53105 Bonn, Germany,Search for more papers by this authorJ. Ingerslev, University Hospital Skejby, Department of Clinical Immunology, Centre for Haemophilia and Thrombosis, DK-8200 Aarhus N, Denmark Search for more papers by this author

      PMID: 10886198

      Gene: F8

      HGNCID: 3546

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

    Tags

    Annotators

    URL

    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/full/10.1046/j.1365-2141.2000.02021.x
  149. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Molecular analysis of hemophilia B in Poland: 12 novel mutations of the factor IX gene
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/10698280/
  150. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Heteroduplex screening for molecular defects in factor IX genes from haemophilia B families
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/pdf/10.1111/j.1365-2141.1995.tb03319.x
  151. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Single Domain Antibody Fragments as New Tools for the Detection of Neuronal Tau Protein in Cells and in Mice Studies. - PubMed - NCBI
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pubmed/31380615
  152. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Identification of 31 novel mutations in the F8 gene in Spanish hemophilia A patients: structural analysis of 20 missense mutations suggests new intermolecular binding sites
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC2275016/
  153. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Design and characterisation of a novel interleukin-15 receptor alpha fusion protein and analysis of interleukin-15 complexation
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC6660064/
  154. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC5992121/
  155. link.springer.com link.springer.com
    Outcomes After Urgent Thyroidectomy Following Rapid Control of Thyrotoxicosis in Graves' Disease are Similar to Those After Elective Surgery in Well-Controlled Disease.
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    link.springer.com/article/10.1007/s00268-019-05125-5
  156. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Splicing dysregulation contributes to the pathogenicity of several F9 exonic point variants
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC6687662/
  157. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Characterization of missense mutations in the signal peptide and propeptide of FIX in hemophilia B by a cell-based assay
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC7422117/
  158. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Lithuanian haemophilia A and B registry comprising phenotypic and genotypic data
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/full/10.1046/j.1365-2141.2001.02671.x
  159. haematologica.org haematologica.org
    Molecular genotyping of the Italian cohort of patients with hemophilia B
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    haematologica.org/article/view/3523
  160. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Molecular analysis of 76 Chinese hemophilia B pedigrees and the identification of 10 novel mutations
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC7667291/
  161. illiad.lib.unc.edu illiad.lib.unc.edu
    Secretion of wild&#x02010;type factor IX upon readthrough over <i>F9</i> pre&#x02010;peptide nonsense mutations causing hemophilia B
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    illiad.lib.unc.edu/NOH/illiad.dll
  162. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Molecular basis of hemophilia B: a defective enzyme due to an unprocessed propeptide is caused by a point mutation in the factor IX precursor.
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC386383/
  163. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Mutation Analysis in F9 Gene of 17 Families with Haemophilia B from Iran
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/10.1111/j.1365-2516.2004.01041.x
  164. www.sciencedirect.com www.sciencedirect.com
    Factor VIII: Long-established role in haemophilia A and emerging evidence beyond haemostasis
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    sciencedirect.com/science/article/pii/S0268960X18301292
  165. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Comprehensive analysis of phenotypes and genetics in 21 Chinese families with haemophilia B: characterization of five novel mutations
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/pdf/10.1111/hae.12534
  166. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Hemophilia B carrier determination based on family-specific mutation detection by DNA single-strand conformation analysis
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/8320491/
  167. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Molecular characterization of factor IX gene mutations in 53 patients with haemophilia B in India
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/16270648/
  168. Local file Local file
    Xanthommatin is Behind the Antioxidant Activity of the Skin of Dosidicus gigas
    1

    Tags

    Annotators

  169. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Analysis of F9 point mutations and their correlation to severity of haemophilia B disease
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/10.1111/j.1365-2516.2012.02848.x
  170. link.springer.com link.springer.com
    Variants in FIX propeptide associated with vitamin K antagonist hypersensitivity: functional analysis and additional data confirming the common founder mutations
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    link.springer.com/article/10.1007/s00277-018-3264-2
  171. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Detection of a molecular defect in 40 of 44 patients with haemophilia B by PCR and denaturing gradient gel electrophoresis
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/8217825/
  172. pubs.acs.org pubs.acs.org
    Enhanced Rates of C–H Bond Cleavage by a Hydrogen-Bonded Synthetic Heme High-Valent Iron(IV) Oxo Complex
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    pubs.acs.org/doi/10.1021/jacs.9b01253
  173. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    The ophthalmic phenotype of IFT140-related ciliopathy ranges from isolated to syndromic congenital retinal dystrophy
    1
    1. ClingenBaseline 23 Oct 2026
      The ophthalmic phenotype of IFT140-related ciliopathy ranges from isolated to syndromic congenital retinal dystrophy

      PMID: 26359340

      Gene: IFT140

      HGNC: 29077

      Disease: Retinitis pigmentosa 80

      MONDO: 0054708

      InheritancePattern: autosomal recessive

      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 recessive mode of inheritance is estimated to be 65-85% (between 1 in 3,500 and 1 in 6,500).

      Penetrance: Disease caused by biallelic IFT140 variants appears to be fully 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

    pubmed.ncbi.nlm.nih.gov/26359340/
  174. www.jbc.org www.jbc.org
    Localization of the Functional Domains of Human Tissue Inhibitor of Metalloproteinases-3 and the Effects of a Sorsby's Fundus Dystrophy Mutation *
    1
    1. ClingenBaseline 23 Oct 2026
      Localization of the Functional Domains of Human Tissue Inhibitor of Metalloproteinases-3 and the Effects of a Sorsby's Fundus Dystrophy Mutation

      PMID: 9642234

      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(18)80608-1/fulltext
  175. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Mutations in IMPG2, Encoding Interphotoreceptor Matrix Proteoglycan 2, Cause Autosomal-Recessive Retinitis Pigmentosa
    1
    1. ClingenBaseline 23 Oct 2026
      Mutations in IMPG2, Encoding Interphotoreceptor Matrix Proteoglycan 2, Cause Autosomal-Recessive Retinitis Pigmentosa

      PMID: 20673862

      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/PMC2917719/
  176. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Whole exome sequencing revealed novel pathogenic variants in Vietnamese patients with FEVR
    1
    1. ClingenBaseline 23 Oct 2026
      Whole exome sequencing revealed novel pathogenic variants in Vietnamese patients with FEVR

      PMID: 37089697

      Gene: CTNNB1

      HGNC: 2514

      Disease: severe intellectual disability-progressive spastic diplegia syndrome

      MONDO: 0014035

      InheritancePattern: autosomal dominant

      Prevalence: The incidence is unknown but estimated to be between 1 in 30,000 and 1 in 40,000 births (PMID: 32168371).

      Penetrance: The penetrance of the cognitive impairment phenotype among cases appears to be near-complete, while the exudative vitreoretinopathy phenotype reportedly has a prevalence of ~39% among affected individuals with a syndromic diagnosis.

      General ClinGen Gene:CTNNB1 HGNC:2514 inferred_gene_hgnc:2514 inferred_gene_source:hgnc_tag Retina GCEP
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC10115361/
  177. www.pnas.org www.pnas.org
    Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or Leber congenital amaurosis
    1
    1. ClingenBaseline 23 Oct 2026
      Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa

      PMID: 9501220

      Gene: RPE65

      HGNC: 10294

      Disease: Retinitis pigmentosa 20

      MONDO: 0013425

      InheritancePattern: Autosomal Recessive

      Prevalence: The overall prevalence of Retinitis pigmentosa is between 1 in 3,000 and 1 in 4,000 individuals, while the proportion of recessive Retinitis pigmentosa caused by RPE65 variants is ~2%. (PMID: 9501220) Thus, the prevalence of Retinitis pigmentosa 20 is between 1 in 150,000 and 1 in 200,000.

      Penetrance: Fully penetrant, with onset typically in childhood

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

    Tags

    Annotators

    URL

    pnas.org/content/95/6/3088
  178. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Molecular genetic and clinical evaluation of three Chinese families with X-linked ocular albinism
    1
    1. ClingenBaseline 23 Oct 2026
      Molecular genetic and clinical evaluation of three Chinese families with X-linked ocular albinism

      PMID: 28211458

      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/PMC5314354/
  179. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Autosomal Recessive Familial Exudative Vitreoretinopathy Is Associated with Mutations in LRP5
    1
    1. ClingenBaseline 23 Oct 2026
      Autosomal Recessive Familial Exudative Vitreoretinopathy Is Associated with Mutations in LRP5

      PMID: 15346351

      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/PMC1182117/
  180. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Evidence for a Retroviral Insertion in TRPM1 as the Cause of Congenital Stationary Night Blindness and Leopard Complex Spotting in the Horse
    1
    1. ClingenBaseline 23 Oct 2026
      Evidence for a Retroviral Insertion in TRPM1 as the Cause of Congenital Stationary Night Blindness and Leopard Complex Spotting in the Horse

      PMID: 24167615

      Gene: TRPM1

      HGNC: 7146

      Disease: congenital stationary night blindness 1C

      MONDO: MONDO:0013183

      InheritancePattern: autosomal 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 1C specifically is unknown.

      Penetrance: Penetrance is thought to be complete.

      General ClinGen Gene:TRPM1 HGNC:7146 inferred_gene_hgnc:7146 inferred_gene_source:hgnc_tag Retina GCEP
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC3805535/
  181. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Mutations in the Cone Photoreceptor G-Protein α-Subunit Gene GNAT2 in Patients with Achromatopsia
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC379175/
  182. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa
    1
    1. ClingenBaseline 23 Oct 2026
      RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa

      PMID: 16055928

      Gene: RPGR

      HGNC: 10295

      Disease: RPGR-related retinopathy

      MONDO: MONDO:0100437

      InheritancePattern: X-linked

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

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

      General ClinGen Gene:RPGR HGNC:10295 inferred_gene_hgnc:10295 inferred_gene_source:hgnc_tag Retina GCEP
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC2563225/
  183. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    The Y141C knockin mutation in RDS leads to complex phenotypes in the mouse
    1
    1. ClingenBaseline 23 Oct 2026
      The Y141C knockin mutation in RDS leads to complex phenotypes in the mouse

      PMID: 25001182

      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

    ncbi.nlm.nih.gov/pmc/articles/PMC4222364/
  184. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    OA1 mutations and deletions in X-linked ocular albinism.
    1
    1. ClingenBaseline 23 Oct 2026
      OA1 mutations and deletions in X-linked ocular albinism.

      PMID: 9529334

      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/PMC1377018/
  185. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Combined NGS Approaches Identify Mutations in the Intraflagellar Transport Gene IFT140 in Skeletal Ciliopathies with Early Progressive Kidney Disease
    1
    1. ClingenBaseline 23 Oct 2026
      Combined NGS Approaches Identify Mutations in the Intraflagellar Transport Gene IFT140 in Skeletal Ciliopathies with Early Progressive Kidney Disease

      PMID: 23418020

      Gene: IFT140

      HGNC: 29077

      Disease: short-rib thoracic dysplasia 9 with or without polydactyly

      MONDO: 0009964

      InheritancePattern: Autosomal Recessive

      Prevalence: The overall prevalence of short-rib thoracic dysplasia is estimated to be between 1 in 100,000 and 1 in 130,000 births (PMID: 931421).

      Penetrance: Disease caused by biallelic IFT140 variants appears to be fully 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

    ncbi.nlm.nih.gov/pmc/articles/PMC4226634/
  186. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Mutations in GPR143/OA1 and ABCA4 Inform Interpretations of Short-Wavelength and Near-Infrared Fundus Autofluorescence
    1
    1. ClingenBaseline 23 Oct 2026
      Mutations in GPR143/OA1 and ABCA4 Inform Interpretations of Short-Wavelength and Near-Infrared Fundus Autofluorescence

      PMID: 29847651

      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/PMC5959512/
  187. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Case Report: OCT angiography in the management of choroidal neovascular membrane secondary to Sorsby fundus dystrophy
    1
    1. ClingenBaseline 23 Oct 2026
      OCT angiography in the management of choroidal neovascular membrane secondary to Sorsby fundus dystrophy

      PMID: 27587748

      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

    ncbi.nlm.nih.gov/pmc/articles/PMC5020863/
  188. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Cardiovascular actions of DOPA mediated by the gene product of ocular albinism 1
    1
    1. ClingenBaseline 23 Oct 2026
      Cardiovascular actions of DOPA mediated by the gene product of ocular albinism 1

      PMID: 25185585

      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/25185585/
  189. iovs.arvojournals.org iovs.arvojournals.org
    Microarray-Based Mutation Detection and Phenotypic Characterization of Patients with Leber Congenital Amaurosis
    1
    1. ClingenBaseline 23 Oct 2026
      Microarray-Based Mutation Detection and Phenotypic Characterization of Patients with Leber Congenital Amaurosis

      PMID: 16505055

      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

    iovs.arvojournals.org/article.aspx
  190. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Mutations in IMPG1 Cause Vitelliform Macular Dystrophies
    1
    1. ClingenBaseline 23 Oct 2026
      Mutations in IMPG1 Cause Vitelliform Macular Dystrophies

      PMID: 23993198

      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/PMC3769927/
  191. www.nature.com www.nature.com
    Sorsby Fundus Dystrophy Mutation in Tissue Inhibitor of Metalloproteinase 3 (TIMP3) promotes Choroidal Neovascularization via a Fibroblast Growth Factor-dependent Mechanism
    1
    1. ClingenBaseline 23 Oct 2026
      Sorsby Fundus Dystrophy Mutation in Tissue Inhibitor of Metalloproteinase 3 (TIMP3) promotes Choroidal Neovascularization via a Fibroblast Growth Factor-dependent Mechanism

      PMID: 31757977

      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

    nature.com/articles/s41598-019-53433-6
  192. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    RBP4-related eye disease in a Danish family with retinitis pigmentosa and congenital ocular malformations
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/36317196/
  193. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Homozygosity Mapping Reveals PDE6C Mutations in Patients with Early-Onset Cone Photoreceptor Disorders
    1
    1. ClingenBaseline 23 Oct 2026
      Homozygosity Mapping Reveals PDE6C Mutations in Patients with Early-Onset Cone Photoreceptor Disorders

      PMID: 19615668

      Gene: PDE6C

      HGNC: 8787

      Disease: cone dystrophy 4

      MONDO: 0013129

      InheritancePattern: recessive

      Prevalence: cone dystrophy in general is estimated to have a prevalence of 1 in 40,000 (PMID: 30578485).

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

      General ClinGen Gene:PDE6C HGNC:8787 inferred_gene_hgnc:8787 inferred_gene_source:hgnc_tag Retina GCEP
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC2725240/
  194. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Whole Exome Sequencing Reveals GUCY2D as a Major Gene Associated With Cone and Cone–Rod Dystrophy in Israel
    1
    1. ClingenBaseline 23 Oct 2026
      Whole Exome Sequencing Reveals GUCY2D as a Major Gene Associated With Cone and Cone–Rod Dystrophy in Israel

      PMID: 25515582

      Gene: GUCY2D

      HGNC: 4689

      Disease: Cone-rod dystrophy 6

      MONDO: 0011143

      InheritancePattern: Autosomal Dominant

      Prevalence: The overall prevalence of cone-rod dystrophy is between 1 in 30,000 and 1 in 40,000 (PMID: 17270046), while the proportion of cone-rod dystrophy caused by GUCY2D variants is between 19% and 23% (PMID: 22183351, PMID: 25515582). Thus, the prevalence of cone-rod dystrophy 6 is between 1 in 130,000 and 1 in 215,000.

      Penetrance: Penetrance is age-dependent, with onset between the 1st and 6th decades of life.

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

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC4296770/
  195. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsia
    1
    1. ClingenBaseline 23 Oct 2026
      Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsia

      PMID: 30080950

      Gene: PDE6C

      HGNC: 8787

      Disease: cone dystrophy 4

      MONDO: 0013129

      InheritancePattern: recessive

      Prevalence: cone dystrophy in general is estimated to have a prevalence of 1 in 40,000 (PMID: 30578485).

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

      General ClinGen Gene:PDE6C HGNC:8787 inferred_gene_hgnc:8787 inferred_gene_source:hgnc_tag Retina GCEP
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/30080950/