13 Matching Annotations
  1. May 2022
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Clinicopathologic and molecular analysis of embryonal rhabdomyosarcoma of the genitourinary tract: evidence for a distinct DICER1-associated subgroup
    1
    1. nslotnick 02 May 2022
      Embryonal rhabdomyosarcoma (ERMS) of the uterus has recently been shown to frequently harbor DICER1 mutations.

      HGNCID:

      GeneName: DICER1 PMID (PubMed ID): 33846547 Inheritance Pattern: Non- inheritance(DNA methylation) Disease Entity: Embryonal rhabdomyosarcoma (ERMS) Mutation: c5113G>A Mutation: c.4420A>G Mutation: c.5428G>T Mutation: c.5125G > A Mutation: c.4267G>T Mutation: c.3580delA Mutation: 5428 G>C Mutation: c.5438 A> C Zygosity: Some Cases displayed homozygosity Variant: Clinvar ID not identified Family Information: not identified case mut: f 28-67 case wt: m&f 0.5-19 pathogenicity: only 2 of 17 patients died from disease
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    ncbi.nlm.nih.gov/pmc/articles/PMC8295035/pdf/41379_2021_Article_804.pdf
  3. Dec 2019
  4. www.sciencedirect.com www.sciencedirect.com
    https://www.sciencedirect.com/science/article/pii/S0002929719301892
    10
    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 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
    3. 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
    4. 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
    5. 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
    6. 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
    7. 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
    8. 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
    9. 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
    10. 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
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    sciencedirect.com/science/article/pii/S0002929719301892
  5. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    https://www.ncbi.nlm.nih.gov/clinvar/variation/545116/
    1
    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
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    ncbi.nlm.nih.gov/clinvar/variation/545116/
  6. 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
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    URL

    monarchinitiative.org/disease/MONDO:0005027