565 Matching Annotations
  1. Jan 2020
  2. www.sciencedirect.com www.sciencedirect.com
    https://www.sciencedirect.com/science/article/pii/S0002929719301910
    39
    1. may_flowers 05 Jan 2020
      2

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000717

      ClinGen hpoLookup monarchLookup HP:0000717 hpoLookup:individual individual:2 gene:TAOK1
    2. may_flowers 05 Jan 2020
      5

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000736

      ClinGen hpoLookup monarchLookup HP:0000736 hpoLookup:individual individual:5 gene:TAOK1
    3. may_flowers 05 Jan 2020
      1

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000736

      ClinGen hpoLookup monarchLookup HP:0000736 hpoLookup:individual individual:1 gene:TAOK1
    4. may_flowers 05 Jan 2020
      5

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0007018

      ClinGen hpoLookup monarchLookup HP:0007018 hpoLookup:individual individual:5 gene:TAOK1
    5. may_flowers 05 Jan 2020
      1

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0007018

      ClinGen hpoLookup monarchLookup HP:0007018 hpoLookup:individual individual:1 gene:TAOK1
    6. may_flowers 05 Jan 2020
      5

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001265

      ClinGen hpoLookup monarchLookup HP:0001265 hpoLookup:individual individual:5 gene:TAOK1
    7. may_flowers 05 Jan 2020
      1

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

      ClinGen hpoLookup monarchLookup HP:0000639 hpoLookup:individual individual:1 gene:TAOK1
    8. may_flowers 05 Jan 2020
      1

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000540

      ClinGen hpoLookup monarchLookup HP:0000540 hpoLookup:individual individual:1 gene:TAOK1
    9. may_flowers 05 Jan 2020
      1

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000505

      ClinGen hpoLookup monarchLookup HP:0000505 hpoLookup:individual individual:1 gene:TAOK1
    10. may_flowers 05 Jan 2020
      1

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000407

      ClinGen hpoLookup monarchLookup HP:0000407 hpoLookup:individual individual:1 gene:TAOK1
    11. may_flowers 05 Jan 2020
      muscular hypotonia

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

      ClinGen hpoLookup monarchLookup HP:0001252 hpoLookup:individual individual:8 gene:TAOK1
    12. may_flowers 05 Jan 2020
      muscular hypotonia

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

      ClinGen hpoLookup monarchLookup HP:0001252 hpoLookup:individual individual:7 gene:TAOK1
    13. may_flowers 05 Jan 2020
      muscular hypotonia

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

      ClinGen hpoLookup monarchLookup HP:0001252 hpoLookup:individual individual:6 gene:TAOK1
    14. may_flowers 05 Jan 2020
      muscular hypotonia

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

      ClinGen hpoLookup monarchLookup HP:0001252 hpoLookup:individual individual:5 gene:TAOK1
    15. may_flowers 05 Jan 2020
      muscular hypotonia

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

      ClinGen hpoLookup monarchLookup HP:0001252 hpoLookup:individual individual:2 gene:TAOK1
    16. may_flowers 05 Jan 2020
      muscular hypotonia

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

      ClinGen hpoLookup monarchLookup HP:0001252 hpoLookup:individual individual:1 gene:TAOK1
    17. may_flowers 05 Jan 2020
      seizures

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

      ClinGen hpoLookup monarchLookup HP:0001250 hpoLookup:individual individual:4 gene:TAOK1
    18. may_flowers 05 Jan 2020
      intellectual disability

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001249

      ClinGen hpoLookup monarchLookup HP:0001249 hpoLookup:individual individual:7 gene:TAOK1
    19. may_flowers 05 Jan 2020
      intellectual disability

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001249

      ClinGen hpoLookup monarchLookup HP:0001249 hpoLookup:individual individual:6 gene:TAOK1
    20. may_flowers 05 Jan 2020
      intellectual disability

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001249

      ClinGen hpoLookup monarchLookup HP:0001249 hpoLookup:individual individual:4 gene:TAOK1
    21. may_flowers 05 Jan 2020
      intellectual disability

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001249

      ClinGen hpoLookup monarchLookup HP:0001249 hpoLookup:individual individual:3 gene:TAOK1
    22. may_flowers 05 Jan 2020
      motor development

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001270

      ClinGen hpoLookup monarchLookup HP:0001270 hpoLookup:individual individual:8 gene:TAOK1
    23. may_flowers 05 Jan 2020
      motor development

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001270

      ClinGen hpoLookup monarchLookup HP:0001270 hpoLookup:individual individual:7 gene:TAOK1
    24. may_flowers 05 Jan 2020
      motor development

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001270

      ClinGen hpoLookup monarchLookup HP:0001270 hpoLookup:individual individual:6 gene:TAOK1
    25. may_flowers 05 Jan 2020
      motor development

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001270

      ClinGen hpoLookup monarchLookup HP:0001270 hpoLookup:individual individual:5 gene:TAOK1
    26. may_flowers 05 Jan 2020
      motor development

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001270

      ClinGen hpoLookup monarchLookup HP:0001270 hpoLookup:individual individual:2 gene:TAOK1
    27. may_flowers 05 Jan 2020
      motor development

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001270

      ClinGen hpoLookup monarchLookup HP:0001270 hpoLookup:individual individual:1 gene:TAOK1
    28. may_flowers 05 Jan 2020
      speech and language development

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000750

      ClinGen hpoLookup monarchLookup HP:0000750 hpoLookup:individual individual:8 gene:TAOK1
    29. may_flowers 05 Jan 2020
      speech and language development

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000750

      ClinGen hpoLookup monarchLookup HP:0000750 hpoLookup:individual individual:7 gene:TAOK1
    30. may_flowers 05 Jan 2020
      speech and language development

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000750

      ClinGen hpoLookup monarchLookup HP:0000750 hpoLookup:individual individual:6 gene:TAOK1
    31. may_flowers 05 Jan 2020
      speech and language development

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000750

      ClinGen hpoLookup monarchLookup HP:0000750 hpoLookup:individual individual:2 gene:TAOK1
    32. may_flowers 05 Jan 2020
      speech and language development

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000750

      ClinGen hpoLookup monarchLookup HP:0000750 hpoLookup:individual individual:1 gene:TAOK1
    33. may_flowers 05 Jan 2020
      developmental delay

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

      ClinGen hpoLookup monarchLookup HP:0001263 hpoLookup:individual individual:7 gene:TAOK1
    34. may_flowers 05 Jan 2020
      developmental delay

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

      ClinGen hpoLookup monarchLookup HP:0001263 hpoLookup:individual individual:6 gene:TAOK1
    35. may_flowers 05 Jan 2020
      developmental delay

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

      ClinGen hpoLookup monarchLookup HP:0001263 hpoLookup:individual individual:4 gene:TAOK1
    36. may_flowers 05 Jan 2020
      developmental delay

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

      ClinGen hpoLookup monarchLookup HP:0001263 hpoLookup:individual individual:3 gene:TAOK1
    37. may_flowers 05 Jan 2020
      developmental delay

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

      ClinGen hpoLookup monarchLookup HP:0001263 hpoLookup:individual individual:2 gene:TAOK1
    38. may_flowers 05 Jan 2020
      developmental delay

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

      ClinGen hpoLookup monarchLookup HP:0001263 hpoLookup:individual individual:1 gene:TAOK1
    39. may_flowers 05 Jan 2020
      TAOK1
      ClinGen gene:TAOK1 pmid:undefined
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    sciencedirect.com/science/article/pii/S0002929719301910
  3. www.sciencedirect.com www.sciencedirect.com
    https://www.sciencedirect.com/science/article/pii/S0002929719301636
    12
    1. may_flowers 05 Jan 2020

      variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/692266/

      ClinGen variantLookup variant:692266 variantLookup:individual individual:3 gene:DNAH17
    2. may_flowers 05 Jan 2020

      variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/692269/

      ClinGen variantLookup variant:692269 variantLookup:individual individual:4 gene:DNAH17
    3. may_flowers 05 Jan 2020

      variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/692269/

      ClinGen variantLookup variant:692269 variantLookup:individual individual:4 gene:DNAH17
    4. may_flowers 05 Jan 2020

      variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/692266/

      ClinGen variantLookup variant:692266 variantLookup:individual individual:2 gene:DNAH17
    5. may_flowers 05 Jan 2020

      variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/692268/

      ClinGen variantLookup variant:692268 variantLookup:individual individual:1 gene:DNAH17
    6. may_flowers 05 Jan 2020

      allele id lookup result: http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA8805224

      ClinGen alleleLookup allele:CA8805224 alleleLookup:individual individual:1 gene:DNAH17
    7. may_flowers 05 Jan 2020
      absent

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0032558

      ClinGen hpoLookup monarchLookup HP:0032558 hpoLookup:group group:1 gene:DNAH17
    8. may_flowers 05 Jan 2020
      coiled

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0032560

      ClinGen hpoLookup monarchLookup HP:0032560 hpoLookup:group group:1 gene:DNAH17
    9. may_flowers 05 Jan 2020
      short

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0032559

      ClinGen hpoLookup monarchLookup HP:0032559 hpoLookup:group group:1 gene:DNAH17
    10. may_flowers 05 Jan 2020
      asthenozoospermia

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0012207

      ClinGen hpoLookup monarchLookup HP:0012207 hpoLookup:group group:1 gene:DNAH17
    11. may_flowers 05 Jan 2020
      primary infertility

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003251

      ClinGen hpoLookup monarchLookup HP:0003251 hpoLookup:individual individual:1 gene:DNAH17
    12. may_flowers 05 Jan 2020
      DNAH17
      ClinGen gene:DNAH17 pmid:undefined
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    URL

    sciencedirect.com/science/article/pii/S0002929719301636
  4. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    https://www.ncbi.nlm.nih.gov/clinvar/variation/692266/
    2
    1. may_flowers 05 Jan 2020

      variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/692266/

      ClinGen variantLookup variant:692266 variantLookup:individual individual:3 gene:DNAH17
    2. may_flowers 05 Jan 2020

      variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/692266/

      ClinGen variantLookup variant:692266 variantLookup:individual individual:1 gene:DNAH17
    Visit annotations in context

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    URL

    ncbi.nlm.nih.gov/clinvar/variation/692266/
  5. Dec 2019
  6. www.sciencedirect.com www.sciencedirect.com
    https://www.sciencedirect.com/science/article/pii/S0002929719302411
    3
    1. megan_mayers 23 Dec 2019
      General hypotonia

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

      ClinGen hpoLookup monarchLookup HP:0001290 hpoLookup:individual individual:6 gene:POLR2A
    2. megan_mayers 23 Dec 2019
      General hypotonia

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

      ClinGen hpoLookup monarchLookup HP:0001290 hpoLookup:individual individual:1 gene:POLR2A
    3. megan_mayers 23 Dec 2019
      POLR2A
      ClinGen gene:POLR2A pmid:undefined
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    URL

    sciencedirect.com/science/article/pii/S0002929719302411
  7. www.sciencedirect.com www.sciencedirect.com
    https://www.sciencedirect.com/science/article/pii/S0002929719301983
    37
    1. may_flowers 20 Dec 2019
      acute respiratory failure

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002093

      ClinGen hpoLookup monarchLookup HP:0002093 hpoLookup:individual individual:1 gene:RINT1
    2. may_flowers 20 Dec 2019
      coagulopathy

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003256

      ClinGen hpoLookup monarchLookup HP:0003256 hpoLookup:group group:1 gene:RINT1
    3. may_flowers 20 Dec 2019
      hyperammonemia

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001987

      ClinGen hpoLookup monarchLookup HP:0001987 hpoLookup:group group:1 gene:RINT1
    4. may_flowers 20 Dec 2019
      54.0 cm (99th percentile)

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003517

      ClinGen hpoLookup monarchLookup HP:0003517 hpoLookup:individual individual:2 gene:RINT1
    5. may_flowers 20 Dec 2019
      2 cm (in acute setting)

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001744

      ClinGen hpoLookup monarchLookup HP:0001744 hpoLookup:individual individual:3 gene:RINT1
    6. may_flowers 20 Dec 2019
      hyperechoic cortex of both kidneys

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0004719

      ClinGen hpoLookup monarchLookup HP:0004719 hpoLookup:individual individual:3 gene:RINT1
    7. may_flowers 20 Dec 2019
      aortic insufficiency

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001659

      ClinGen hpoLookup monarchLookup HP:0001659 hpoLookup:individual individual:3 gene:RINT1
    8. may_flowers 20 Dec 2019
      +

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003170

      ClinGen hpoLookup monarchLookup HP:0003170 hpoLookup:individual individual:2 gene:RINT1
    9. may_flowers 20 Dec 2019
      +

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003170

      ClinGen hpoLookup monarchLookup HP:0003170 hpoLookup:individual individual:1 gene:RINT1
    10. may_flowers 20 Dec 2019
      Platyspondyly

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000926

      ClinGen hpoLookup monarchLookup HP:0000926 hpoLookup:individual individual:1 gene:RINT1
    11. may_flowers 20 Dec 2019
      +

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001395

      ClinGen hpoLookup monarchLookup HP:0001395 hpoLookup:individual individual:1 gene:RINT1
    12. may_flowers 20 Dec 2019
      +

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001397

      ClinGen hpoLookup monarchLookup HP:0001397 hpoLookup:individual individual:2 gene:RINT1
    13. may_flowers 20 Dec 2019
      +

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001397

      ClinGen hpoLookup monarchLookup HP:0001397 hpoLookup:individual individual:1 gene:RINT1
    14. may_flowers 20 Dec 2019
      <3rd percentile

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0004322

      ClinGen hpoLookup monarchLookup HP:0004322 hpoLookup:individual individual:2 gene:RINT1
    15. may_flowers 19 Dec 2019

      variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/547946/

      ClinGen variantLookup variant:547946 variantLookup:individual individual:1 gene:RINT1
    16. may_flowers 19 Dec 2019

      variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/692227/

      ClinGen variantLookup variant:692227 variantLookup:individual individual:2 gene:RINT1
    17. may_flowers 19 Dec 2019

      variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/547947/

      ClinGen variantLookup variant:547947 variantLookup:individual individual:1 gene:RINT1
    18. may_flowers 19 Dec 2019

      variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/547947/

      ClinGen variantLookup variant:547947 variantLookup:individual individual:3 gene:RINT1
    19. may_flowers 19 Dec 2019

      variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/599396/

      ClinGen variantLookup variant:599396 variantLookup:individual individual:3 gene:RINT1
    20. may_flowers 19 Dec 2019

      variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/692228/

      ClinGen variantLookup variant:692228 variantLookup:individual individual:2 gene:RINT1
    21. may_flowers 19 Dec 2019
      Abnormal femoral head epiphysis

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0010574

      ClinGen hpoLookup monarchLookup HP:0010574 hpoLookup:group group:1 gene:RINT1
    22. may_flowers 19 Dec 2019
      Irregular vertebrae

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0004582

      ClinGen hpoLookup monarchLookup HP:0004582 hpoLookup:group group:1 gene:RINT1
    23. may_flowers 19 Dec 2019
      Hypoplastic vertebrae

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0008417

      ClinGen hpoLookup monarchLookup HP:0008417 hpoLookup:group group:1 gene:RINT1
    24. may_flowers 19 Dec 2019
      INR

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0008151

      ClinGen hpoLookup monarchLookup HP:0008151 hpoLookup:group group:1 gene:RINT1
    25. may_flowers 19 Dec 2019
      RALF

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0006554

      ClinGen hpoLookup monarchLookup HP:0006554 hpoLookup:group group:1 gene:RINT1
    26. may_flowers 19 Dec 2019
      Hepatomegaly

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002240

      ClinGen hpoLookup monarchLookup HP:0002240 hpoLookup:group group:1 gene:RINT1
    27. may_flowers 19 Dec 2019
      Prothrombin time

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0008151

      ClinGen hpoLookup monarchLookup HP:0008151 hpoLookup:group group:1 gene:RINT1
    28. may_flowers 19 Dec 2019
      Total bilirubin

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003573

      ClinGen hpoLookup monarchLookup HP:0003573 hpoLookup:group group:1 gene:RINT1
    29. may_flowers 19 Dec 2019
      AST

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0031956

      ClinGen hpoLookup monarchLookup HP:0031956 hpoLookup:group group:1 gene:RINT1
    30. may_flowers 19 Dec 2019
      ALT

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0031964

      ClinGen hpoLookup monarchLookup HP:0031964 hpoLookup:group group:1 gene:RINT1
    31. may_flowers 19 Dec 2019
      Glucose

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001943

      ClinGen hpoLookup monarchLookup HP:0001943 hpoLookup:group group:1 gene:RINT1
    32. may_flowers 19 Dec 2019
      Splenomegaly

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0006268

      ClinGen hpoLookup monarchLookup HP:0006268 hpoLookup:individual individual:1 gene:RINT1
    33. may_flowers 19 Dec 2019
      <3rd percentile

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0004322

      ClinGen hpoLookup monarchLookup HP:0004322 hpoLookup:individual individual:1 gene:RINT1
    34. may_flowers 19 Dec 2019
      elevated methionine

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003235

      ClinGen hpoLookup monarchLookup HP:0003235 hpoLookup:individual individual:1 gene:RINT1
    35. may_flowers 19 Dec 2019
      talipes equinovarus

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001762

      ClinGen hpoLookup monarchLookup HP:0001762 hpoLookup:individual individual:1 gene:RINT1
    36. may_flowers 19 Dec 2019
      Neonatal jaundice

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0006579

      ClinGen hpoLookup monarchLookup HP:0006579 hpoLookup:individual individual:1 gene:RINT1
    37. may_flowers 19 Dec 2019
      RINT1
      ClinGen gene:RINT1 pmid:undefined
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    sciencedirect.com/science/article/pii/S0002929719301983
  8. 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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    sciencedirect.com/science/article/pii/S0002929719301892
  9. 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
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    ncbi.nlm.nih.gov/clinvar/variation/545116/
  10. www.sciencedirect.com www.sciencedirect.com
    https://www.sciencedirect.com/science/article/pii/S0002929719303489?via%3Dihub
    2
    1. megan_mayers 16 Dec 2019
      NKAP
      ClinGen gene:NKAP pmid:undefined
    2. megan_mayers 13 Dec 2019
      NKAP
      ClinGen gene:NKAP pmid:undefined
    Visit annotations in context

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    sciencedirect.com/science/article/pii/S0002929719303489
  11. 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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    monarchinitiative.org/disease/MONDO:0005027
  12. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6376703/
    3
    1. may_flowers 16 Dec 2019
      atrophy

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP%3A0003202

      ClinGen hpoLookup monarchLookup HP%3A0003202 hpoLookup:individual individual:1 gene:SGCA
    2. may_flowers 16 Dec 2019
      progressive muscle weakness

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003323

      ClinGen hpoLookup monarchLookup HP:0003323 hpoLookup:individual individual:1 gene:SGCA
    3. may_flowers 16 Dec 2019
      SGCA
      ClinGen gene:SGCA pmid:30764848
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    ncbi.nlm.nih.gov/pmc/articles/PMC6376703/
  13. www.sciencedirect.com www.sciencedirect.com
    https://www.sciencedirect.com/science/article/pii/S0002929719303489
    1
    1. may_flowers 13 Dec 2019
      NKAP
      ClinGen gene:NKAP pmid:undefined
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    sciencedirect.com/science/article/pii/S0002929719303489
  14. www.sciencedirect.com www.sciencedirect.com
    https://www.sciencedirect.com/science/article/pii/S0002929719302733?via%3Dihub
    9
    1. cthaxton 05 Dec 2019
      Small head circumference

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000252

      ClinGen hpoLookup monarchLookup HP:0000252 hpoLookup:individual individual:1 gene:DDX6
    2. cthaxton 05 Dec 2019
      Speech delay

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000750

      ClinGen hpoLookup monarchLookup HP:0000750 hpoLookup:individual individual:1 gene:DDX6
    3. cthaxton 05 Dec 2019
      ID

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001249

      ClinGen hpoLookup monarchLookup HP:0001249 hpoLookup:group group:1 gene:DDX6
    4. cthaxton 05 Dec 2019
      DDX6
      ClinGen gene:DDX6 pmid:undefined
    5. cthaxton 05 Dec 2019
      ID

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001249

      ClinGen hpoLookup monarchLookup HP:0001249 hpoLookup:individual individual:1 gene:DDX6
    6. mjairath 05 Dec 2019
      DDX6
      ClinGen gene:DDX6 pmid:undefined
    7. megan_mayers 05 Dec 2019
      DDX6
      ClinGen gene:DDX6 pmid:undefined
    8. cthaxton 05 Dec 2019
      DDX6
      ClinGen gene:DDX6 pmid:undefined
    9. mjairath 05 Dec 2019
      DDX6
      ClinGen gene:DDX6 pmid:undefined
    Visit annotations in context

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    sciencedirect.com/science/article/pii/S0002929719302733
  15. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4200603/
    1
    1. may_flowers 05 Dec 2019
      TPM2
      ClinGen gene:TPM2 pmid:24692096
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    ncbi.nlm.nih.gov/pmc/articles/PMC4200603/
  16. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4200603/?AAAGH
    1
    1. may_flowers 05 Dec 2019
      TPM2
      ClinGen gene:TPM2 pmid:24692096
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    ncbi.nlm.nih.gov/pmc/articles/PMC4200603/
  17. Nov 2019
  18. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant
    25
    1. mjairath 19 Nov 2019
      hypertrophy of slow fibres

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP%3A0100293

      ClinGen hpoLookup monarchLookup HP%3A0100293 hpoLookup:individual individual:1 gene:TNNT3
    2. mjairath 19 Nov 2019
      fibre degeneration

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0100295

      ClinGen hpoLookup monarchLookup HP:0100295 hpoLookup:individual individual:1 gene:TNNT3
    3. mjairath 19 Nov 2019
      interstitial fibrosis

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002206

      ClinGen hpoLookup monarchLookup HP:0002206 hpoLookup:individual individual:1 gene:TNNT3
    4. mjairath 19 Nov 2019
      hypertrophy of Type 1 (slow) fibres

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP%3A0100293

      ClinGen hpoLookup monarchLookup HP%3A0100293 hpoLookup:individual individual:1 gene:TNNT3
    5. mjairath 19 Nov 2019
      nemaline rods

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003798

      ClinGen hpoLookup monarchLookup HP:0003798 hpoLookup:individual individual:1 gene:TNNT3
    6. mjairath 19 Nov 2019
      selective and marked atrophy of Type 2 (fast) fibres

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003554

      ClinGen hpoLookup monarchLookup HP:0003554 hpoLookup:individual individual:1 gene:TNNT3
    7. mjairath 19 Nov 2019
      nasogastric tube feedin

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0040288

      ClinGen hpoLookup monarchLookup HP:0040288 hpoLookup:individual individual:1 gene:TNNT3
    8. mjairath 19 Nov 2019
      bulbar weakness

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001283

      ClinGen hpoLookup monarchLookup HP:0001283 hpoLookup:individual individual:1 gene:TNNT3
    9. mjairath 19 Nov 2019
      non-invasive ventilation

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP%3A0004887

      ClinGen hpoLookup monarchLookup HP%3A0004887 hpoLookup:individual individual:1 gene:TNNT3
    10. mjairath 19 Nov 2019
      respiratory muscle weakness

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002747

      ClinGen hpoLookup monarchLookup HP:0002747 hpoLookup:individual individual:1 gene:TNNT3
    11. mjairath 19 Nov 2019
      thoracic scoliosis

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002943

      ClinGen hpoLookup monarchLookup HP:0002943 hpoLookup:individual individual:1 gene:TNNT3
    12. mjairath 19 Nov 2019
      thoracic scoliosis

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002943

      ClinGen hpoLookup monarchLookup HP:0002943 hpoLookup:individual individual:1 gene:TNNT3
    13. mjairath 19 Nov 2019
      bilateral hip dislocation

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0008780

      ClinGen hpoLookup monarchLookup HP:0008780 hpoLookup:individual individual:1 gene:TNNT3
    14. mjairath 19 Nov 2019
      finger contractures

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0005879

      ClinGen hpoLookup monarchLookup HP:0005879 hpoLookup:individual individual:1 gene:TNNT3
    15. mjairath 19 Nov 2019
      knee contractures

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0006380

      ClinGen hpoLookup monarchLookup HP:0006380 hpoLookup:individual individual:1 gene:TNNT3
    16. mjairath 19 Nov 2019
      high arched palate

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000218

      ClinGen hpoLookup monarchLookup HP:0000218 hpoLookup:individual individual:1 gene:TNNT3
    17. mjairath 19 Nov 2019
      hypotonia

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

      ClinGen hpoLookup monarchLookup HP:0001252 hpoLookup:individual individual:1 gene:TNNT3
    18. mjairath 19 Nov 2019
      limb muscles

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0009028

      ClinGen hpoLookup monarchLookup HP:0009028 hpoLookup:individual individual:1 gene:TNNT3
    19. mjairath 19 Nov 2019
      weakness of facial

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0030319

      ClinGen hpoLookup monarchLookup HP:0030319 hpoLookup:individual individual:1 gene:TNNT3
    20. mjairath 19 Nov 2019
      rocker-bottom

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001838

      ClinGen hpoLookup monarchLookup HP:0001838 hpoLookup:individual individual:1 gene:TNNT3
    21. mjairath 19 Nov 2019
      bilateral talipes

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001776

      ClinGen hpoLookup monarchLookup HP:0001776 hpoLookup:individual individual:1 gene:TNNT3
    22. mjairath 19 Nov 2019
      overlapping digits

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0010557

      ClinGen hpoLookup monarchLookup HP:0010557 hpoLookup:individual individual:1 gene:TNNT3
    23. mjairath 19 Nov 2019
      overlapping digits

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001845

      ClinGen hpoLookup monarchLookup HP:0001845 hpoLookup:individual individual:1 gene:TNNT3
    24. mjairath 19 Nov 2019
      polyhydramnios

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001561

      ClinGen hpoLookup monarchLookup HP:0001561 hpoLookup:individual individual:1 gene:TNNT3
    25. mjairath 19 Nov 2019
      TNNT3
      ClinGen gene:TNNT3 pmid:29266598
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    ncbi.nlm.nih.gov/pmc/articles/PMC5805634/
  19. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients
    1
    1. megan_mayers 18 Nov 2019
      MYH7
      ClinGen gene:MYH7 pmid:27387980
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    ncbi.nlm.nih.gov/pmc/articles/PMC4936326/
  20. Oct 2019
  21. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3007158/
    5
    1. may_flowers 07 Oct 2019
      aminoaciduria

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003355

      ClinGen hpoLookup monarchLookup HP:0003355 hpoLookup:individual individual:1 gene:SLC1A1
    2. may_flowers 07 Oct 2019
      aspartate level

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0010899

      ClinGen hpoLookup monarchLookup HP:0010899 hpoLookup:individual individual:1 gene:SLC1A1
    3. may_flowers 07 Oct 2019
      obsessive-compulsive trait

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0008770

      ClinGen hpoLookup monarchLookup HP:0008770 hpoLookup:individual individual:1 gene:SLC1A1
    4. may_flowers 07 Oct 2019
      kidney stones

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000787

      ClinGen hpoLookup monarchLookup HP:0000787 hpoLookup:individual individual:1 gene:SLC1A1
    5. may_flowers 07 Oct 2019
      SLC1A1
      ClinGen gene:SLC1A1 pmid:21123949
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    ncbi.nlm.nih.gov/pmc/articles/PMC3007158/
  22. 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
    4
    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
    3. cthaxton 01 Oct 2019
      developmental delay

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

      ClinGen hpoLookup monarchLookup HP:0001263 hpoLookup:group group:1 gene:developmental delay
    4. cthaxton 01 Oct 2019
      developmental delay
      ClinGen gene:developmental delay pmid:30057029
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    ncbi.nlm.nih.gov/pmc/articles/PMC6080769/
  23. 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
  24. reg.clinicalgenome.org reg.clinicalgenome.org
    https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA346764646
    1
    1. cthaxton 01 Oct 2019

      allele id lookup result: https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA346764646

      ClinGen alleleLookup allele:CA346764646 alleleLookup:individual individual:2 gene:developmental delay
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    reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid
  25. onlinelibrary.wiley.com onlinelibrary.wiley.com
    https://onlinelibrary.wiley.com/doi/full/10.1111/cge.13608
    2
    1. cthaxton 01 Oct 2019
      progressive microcephaly

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000252

      ClinGen hpoLookup monarchLookup HP:0000252 hpoLookup:group group:1 gene:PLAA
    2. cthaxton 01 Oct 2019
      PLAA
      ClinGen gene:PLAA pmid:undefined
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    onlinelibrary.wiley.com/doi/full/10.1111/cge.13608
  26. Sep 2019
  27. 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
    15
    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
    Visit annotations in context

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