32 Matching Annotations
  1. Oct 2019
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder
    2
    1. cthaxton 01 Oct 2019

      variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/559601/

      ClinGen variantLookup variant:559601 variantLookup:individual individual:1 gene:FBXO11
    2. cthaxton 01 Oct 2019
      FBXO11
      ClinGen gene:FBXO11 pmid:30057029
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    ncbi.nlm.nih.gov/pmc/articles/PMC6080769/
  3. reg.clinicalgenome.org reg.clinicalgenome.org
    https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA346813374
    1
    1. cthaxton 01 Oct 2019

      allele id lookup result: https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA346813374

      ClinGen alleleLookup allele:CA346813374 alleleLookup:individual individual:1 gene:FBXO11
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    reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid
  4. Sep 2019
  5. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder
    29
    1. cthaxton 27 Sep 2019

      allele id lookup result

      ClinGen alleleLookup allele:CA346813374 alleleLookup:individual individual:2 gene:FBXO11
    2. ppascual 16 Sep 2019

      variant id lookup result

      ClinGen variantLookup variant:495703 variantLookup:family family:1 gene:FBXO11
    3. ppascual 16 Sep 2019

      variant id lookup result

      ClinGen variantLookup variant:495703 variantLookup:family family:1 gene:FBXO11
    4. cthaxton 11 Sep 2019
      Seizures

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001250

      ClinGen hpoLookup monarchLookup HP:0001250 hpoLookup:individual individual:2 gene:FBXO11
    5. cthaxton 11 Sep 2019
      22 mo

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0031936

      ClinGen hpoLookup monarchLookup HP:0031936 hpoLookup:individual individual:2 gene:FBXO11
    6. cthaxton 11 Sep 2019

      variant id lookup result

      ClinGen variantLookup variant:559600 variantLookup:individual individual:1 gene:FBXO11
    7. cthaxton 11 Sep 2019
      constipation

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002019

      ClinGen hpoLookup monarchLookup HP:0002019 hpoLookup:individual individual:1 gene:FBXO11
    8. cthaxton 11 Sep 2019
      hairy elbows

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0004780

      ClinGen hpoLookup monarchLookup HP:0004780 hpoLookup:individual individual:1 gene:FBXO11
    9. cthaxton 11 Sep 2019
      strabismus

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000486

      ClinGen hpoLookup monarchLookup HP:0000486 hpoLookup:individual individual:1 gene:FBXO11
    10. cthaxton 11 Sep 2019
      joint laxity

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001388

      ClinGen hpoLookup monarchLookup HP:0001388 hpoLookup:individual individual:1 gene:FBXO11
    11. cthaxton 11 Sep 2019
      fetal fingerpads

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001212

      ClinGen hpoLookup monarchLookup HP:0001212 hpoLookup:individual individual:1 gene:FBXO11
    12. cthaxton 11 Sep 2019
      mild hypertelorism

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000316

      ClinGen hpoLookup monarchLookup HP:0000316 hpoLookup:individual individual:1 gene:FBXO11
    13. cthaxton 11 Sep 2019
      long eyelashes

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000527

      ClinGen hpoLookup monarchLookup HP:0000527 hpoLookup:individual individual:1 gene:FBXO11
    14. cthaxton 11 Sep 2019
      mild exophthalmos

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP%3A0000520

      ClinGen hpoLookup monarchLookup HP%3A0000520 hpoLookup:individual individual:1 gene:FBXO11
    15. cthaxton 11 Sep 2019
      broad forehead

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000337

      ClinGen hpoLookup monarchLookup HP:0000337 hpoLookup:individual individual:1 gene:FBXO11
    16. cthaxton 11 Sep 2019
      triangular face

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000325

      ClinGen hpoLookup monarchLookup HP:0000325 hpoLookup:individual individual:1 gene:FBXO11
    17. cthaxton 11 Sep 2019
      aggressivity

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000718

      ClinGen hpoLookup monarchLookup HP:0000718 hpoLookup:individual individual:1 gene:FBXO11
    18. cthaxton 11 Sep 2019
      no eye contact,

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000817

      ClinGen hpoLookup monarchLookup HP:0000817 hpoLookup:individual individual:1 gene:FBXO11
    19. cthaxton 11 Sep 2019
      social interaction

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0012760

      ClinGen hpoLookup monarchLookup HP:0012760 hpoLookup:individual individual:1 gene:FBXO11
    20. cthaxton 11 Sep 2019
      autistic

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000729

      ClinGen hpoLookup monarchLookup HP:0000729 hpoLookup:individual individual:1 gene:FBXO11
    21. cthaxton 11 Sep 2019
      yes

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001290

      ClinGen hpoLookup monarchLookup HP:0001290 hpoLookup:individual individual:1 gene:FBXO11
    22. cthaxton 11 Sep 2019
      severe

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP%3A0011344

      ClinGen hpoLookup monarchLookup HP%3A0011344 hpoLookup:individual individual:1 gene:FBXO11
    23. cthaxton 11 Sep 2019
      no speech

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001344

      ClinGen hpoLookup monarchLookup HP:0001344 hpoLookup:individual individual:1 gene:FBXO11
    24. cthaxton 11 Sep 2019
      122 cm (−2.7)

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP%3A0000002

      ClinGen hpoLookup monarchLookup HP%3A0000002 hpoLookup:individual individual:1 gene:FBXO11
    25. cthaxton 11 Sep 2019
      Facial dysmorphisms

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP%3A0000271

      ClinGen hpoLookup monarchLookup HP%3A0000271 hpoLookup:group group:1 gene:FBXO11
    26. cthaxton 11 Sep 2019
      sleeping difficulties

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002360

      ClinGen hpoLookup monarchLookup HP:0002360 hpoLookup:group group:1 gene:FBXO11
    27. cthaxton 11 Sep 2019
      Behavioral abnormalities

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000708

      ClinGen hpoLookup monarchLookup HP:0000708 hpoLookup:group group:1 gene:FBXO11
    28. cthaxton 11 Sep 2019
      developmental delay

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001263

      ClinGen hpoLookup monarchLookup HP:0001263 hpoLookup:group group:1 gene:FBXO11
    29. cthaxton 11 Sep 2019
      FBXO11
      ClinGen gene:FBXO11 pmid:30057029
    Visit annotations in context

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    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC6080769/