36 Matching Annotations
  1. Dec 2019
  2. www.sciencedirect.com www.sciencedirect.com
    https://www.sciencedirect.com/science/article/pii/S0002929719301892
    33
    1. may_flowers 19 Dec 2019

      variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/634925/

      ClinGen variantLookup variant:634925 variantLookup:family family:2 gene:NUP214
    2. may_flowers 19 Dec 2019
      failure to thrive

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001508

      ClinGen hpoLookup monarchLookup HP:0001508 hpoLookup:individual individual:4 gene:NUP214
    3. may_flowers 19 Dec 2019
      hyperkinetic

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002487

      ClinGen hpoLookup monarchLookup HP:0002487 hpoLookup:individual individual:3 gene:NUP214
    4. may_flowers 19 Dec 2019
      nystagmus

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000639

      ClinGen hpoLookup monarchLookup HP:0000639 hpoLookup:individual individual:3 gene:NUP214
    5. may_flowers 19 Dec 2019
      right esotropia

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000565

      ClinGen hpoLookup monarchLookup HP:0000565 hpoLookup:individual individual:2 gene:NUP214
    6. may_flowers 19 Dec 2019
      cortical edema

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002181

      ClinGen hpoLookup monarchLookup HP:0002181 hpoLookup:individual individual:2 gene:NUP214
    7. may_flowers 19 Dec 2019
      downward gaze deviation

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0025330

      ClinGen hpoLookup monarchLookup HP:0025330 hpoLookup:individual individual:2 gene:NUP214
    8. may_flowers 19 Dec 2019
      tongue thrusting

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0100703

      ClinGen hpoLookup monarchLookup HP:0100703 hpoLookup:individual individual:2 gene:NUP214
    9. may_flowers 19 Dec 2019
      axial hypotonia

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0008936

      ClinGen hpoLookup monarchLookup HP:0008936 hpoLookup:individual individual:2 gene:NUP214
    10. may_flowers 16 Dec 2019
      appendicular spasticity

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001257

      ClinGen hpoLookup monarchLookup HP:0001257 hpoLookup:individual individual:1 gene:NUP214
    11. may_flowers 16 Dec 2019
      could not verbalize

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002300

      ClinGen hpoLookup monarchLookup HP:0002300 hpoLookup:individual individual:1 gene:NUP214
    12. may_flowers 16 Dec 2019
      lost voluntary mobility

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003470

      ClinGen hpoLookup monarchLookup HP:0003470 hpoLookup:individual individual:1 gene:NUP214
    13. may_flowers 16 Dec 2019
      bilateral nonsynchronous spikes

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002353

      ClinGen hpoLookup monarchLookup HP:0002353 hpoLookup:individual individual:1 gene:NUP214
    14. may_flowers 16 Dec 2019
      short non-provoked generalized tonic-clonic seizures

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002069

      ClinGen hpoLookup monarchLookup HP:0002069 hpoLookup:individual individual:1 gene:NUP214
    15. may_flowers 16 Dec 2019
      intractable epilepsy

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

      ClinGen hpoLookup monarchLookup HP:0001250 hpoLookup:individual individual:1 gene:NUP214
    16. may_flowers 16 Dec 2019
      ataxia

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001251

      ClinGen hpoLookup monarchLookup HP:0001251 hpoLookup:individual individual:1 gene:NUP214
    17. may_flowers 16 Dec 2019
      status epilepticus

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002133

      ClinGen hpoLookup monarchLookup HP:0002133 hpoLookup:family family:2 gene:NUP214
    18. may_flowers 16 Dec 2019
      Hyponatremia

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002902

      ClinGen hpoLookup monarchLookup HP:0002902 hpoLookup:family family:2 gene:NUP214
    19. may_flowers 16 Dec 2019
      Cerebellar atrophy

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001272

      ClinGen hpoLookup monarchLookup HP:0001272 hpoLookup:family family:2 gene:NUP214
    20. may_flowers 16 Dec 2019
      Myoclonic jerks

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001336

      ClinGen hpoLookup monarchLookup HP:0001336 hpoLookup:family family:2 gene:NUP214
    21. may_flowers 16 Dec 2019
      Ataxia

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001251

      ClinGen hpoLookup monarchLookup HP:0001251 hpoLookup:family family:2 gene:NUP214
    22. may_flowers 16 Dec 2019
      Hypotonia

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001252

      ClinGen hpoLookup monarchLookup HP:0001252 hpoLookup:family family:2 gene:NUP214
    23. may_flowers 16 Dec 2019
      Progressive microcephaly

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000253

      ClinGen hpoLookup monarchLookup HP:0000253 hpoLookup:family family:2 gene:NUP214
    24. may_flowers 16 Dec 2019
      Developmental regression

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002376

      ClinGen hpoLookup monarchLookup HP:0002376 hpoLookup:family family:2 gene:NUP214
    25. may_flowers 16 Dec 2019
      Developmental delay

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

      ClinGen hpoLookup monarchLookup HP:0001263 hpoLookup:family family:2 gene:NUP214
    26. may_flowers 16 Dec 2019
      Myoclonic jerks

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001336

      ClinGen hpoLookup monarchLookup HP:0001336 hpoLookup:family family:1 gene:NUP214
    27. may_flowers 16 Dec 2019
      encephalopathy

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001298

      ClinGen hpoLookup monarchLookup HP:0001298 hpoLookup:family family:1 gene:NUP214
    28. may_flowers 16 Dec 2019
      Hyponatremia

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002902

      ClinGen hpoLookup monarchLookup HP:0002902 hpoLookup:family family:1 gene:NUP214
    29. may_flowers 16 Dec 2019
      Cerebellar atrophy

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001272

      ClinGen hpoLookup monarchLookup HP:0001272 hpoLookup:family family:1 gene:NUP214
    30. may_flowers 16 Dec 2019
      Progressive microcephaly

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000253

      ClinGen hpoLookup monarchLookup HP:0000253 hpoLookup:family family:1 gene:NUP214
    31. may_flowers 16 Dec 2019
      Developmental regression

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002376

      ClinGen hpoLookup monarchLookup HP:0002376 hpoLookup:family family:1 gene:NUP214
    32. may_flowers 16 Dec 2019
      Developmental delay

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

      ClinGen hpoLookup monarchLookup HP:0001263 hpoLookup:family family:1 gene:NUP214
    33. may_flowers 16 Dec 2019
      NUP214
      ClinGen gene:NUP214 pmid:undefined
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    URL

    sciencedirect.com/science/article/pii/S0002929719301892
  3. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    https://www.ncbi.nlm.nih.gov/clinvar/variation/545116/
    2
    1. may_flowers 19 Dec 2019

      variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/634924/

      ClinGen variantLookup variant:634924 variantLookup:family family:2 gene:NUP214
    2. may_flowers 19 Dec 2019

      variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/545116/

      ClinGen variantLookup variant:545116 variantLookup:family family:1 gene:NUP214
    Visit annotations in context

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    URL

    ncbi.nlm.nih.gov/clinvar/variation/545116/
  4. monarchinitiative.org monarchinitiative.org
    https://monarchinitiative.org/disease/MONDO:0005027
    1
    1. may_flowers 16 Dec 2019

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

      ClinGen hpoLookup monarchLookup HP:0001250 hpoLookup:family family:2 gene:NUP214
    Visit annotations in context

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    Annotators

    URL

    monarchinitiative.org/disease/MONDO:0005027