565 Matching Annotations
  1. Sep 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
    14
    1. 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
    2. 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
    3. 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
    4. 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
    5. 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
    6. 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
    7. 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
    8. 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
    9. 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
    10. 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
    11. 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
    12. 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
    13. 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
    14. cthaxton 11 Sep 2019
      FBXO11
      ClinGen gene:FBXO11 pmid:30057029
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    ncbi.nlm.nih.gov/pmc/articles/PMC6080769/
  3. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6323416/
    1
    1. cthaxton 11 Sep 2019
      RNF13
      ClinGen gene:RNF13 pmid:30595371
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    ncbi.nlm.nih.gov/pmc/articles/PMC6323416/
  4. reader.elsevier.com reader.elsevier.com
    Hereditary protein C deficiency caused by compound heterozygous mutants in two independent Chinese families
    1
    1. TylerOwens 10 Sep 2019
      Hereditary protein C deficiency caused by compound heterozygousmutants in two independent Chinese families

      PMID: 25393254

      Gene: PROC

      Disease: Thrombophilia due to protein C deficiency

      MonDO: 0012860

      InheritancePattern: Autosomal Recessive

      PROC Clingen General
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    reader.elsevier.com/reader/sd/pii/S0031302516305153
  5. Aug 2019
  6. clinicalgenome.org clinicalgenome.org
    gene-disease_validity_standard_operating_procedures_version_7.pdf
    1
    1. cthaxton 31 Aug 2019
      Version 7

      ClinGen Gene-Disease Validity Standard operating Procedures Version 7 was released on August 12, 2019.

      ClinGen GeneCurationWorkingGroup SOPv7
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    clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf
  7. www.clinicalgenome.org www.clinicalgenome.org
    Gene-Disease Validity Training Materials - ClinGen | Clinical Genome Resource
    1
    1. cthaxton 31 Aug 2019
      Standard Operating Procedures

      To see Hypothes.is annotated notes on the SOP, click the hyperlink on the webpage titled "Gene-Disease Validity Standard Operating Procedures, Version 7"

      ClinGen SOPv7
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    clinicalgenome.org/curation-activities/gene-disease-validity/training-materials/
  8. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    https://www.ncbi.nlm.nih.gov/pmc/articles/PMC26779/
    1
    1. may_flowers 27 Aug 2019
      NEB
      ClinGen gene:NEB pmid:10051637
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    ncbi.nlm.nih.gov/pmc/articles/PMC26779/
  9. www.cell.com www.cell.com
    Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome
    11
    1. megan_mayers 12 Aug 2019
      Lumbar gibbus

      Monarch lookup result: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5294674/#annotations:NNq7xL0dEemwJUvA1NrCBA

      ClinGen hpoLookup monarchLookup HP:0008454 phenotype:family family:4 gene:EXTL3
    2. megan_mayers 12 Aug 2019
      disproportionate stature

      Monarch lookup result: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5294674/#annotations:NNq7xL0dEemwJUvA1NrCBA

      ClinGen hpoLookup monarchLookup HP:0003498 phenotype:family family:5 gene:EXTL3
    3. megan_mayers 12 Aug 2019
      disproportionate stature

      Monarch lookup result: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5294674/#annotations:NNq7xL0dEemwJUvA1NrCBA

      ClinGen hpoLookup monarchLookup HP:0003498 phenotype:family family:4 gene:EXTL3
    4. megan_mayers 12 Aug 2019
      disproportionate stature

      Monarch lookup result: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5294674/#annotations:NNq7xL0dEemwJUvA1NrCBA

      ClinGen hpoLookup monarchLookup HP:0003498 phenotype:family family:3 gene:EXTL3
    5. megan_mayers 12 Aug 2019
      platyspondyly

      Monarch lookup result: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5294674/#annotations:NNq7xL0dEemwJUvA1NrCBA

      ClinGen hpoLookup monarchLookup HP:0000926 phenotype:family family:5 gene:EXTL3
    6. megan_mayers 12 Aug 2019
      platyspondyly

      Monarch lookup result: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5294674/#annotations:NNq7xL0dEemwJUvA1NrCBA

      ClinGen hpoLookup monarchLookup HP:0000926 phenotype:family family:4 gene:EXTL3
    7. megan_mayers 12 Aug 2019
      platyspondyly

      Monarch lookup result: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5294674/#annotations:NNq7xL0dEemwJUvA1NrCBA

      ClinGen hpoLookup monarchLookup HP:0000926 phenotype:family family:3 gene:EXTL3
    8. megan_mayers 12 Aug 2019
      Lumbar gibbus

      Monarch lookup result: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5294674/#annotations:NNq7xL0dEemwJUvA1NrCBA

      ClinGen hpoLookup monarchLookup HP:0008454 phenotype:family family:3 gene:EXTL3
    9. megan_mayers 12 Aug 2019
      disproportionate stature

      Monarch lookup result: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5294674/#annotations:NNq7xL0dEemwJUvA1NrCBA

      ClinGen hpoLookup monarchLookup HP:0003498 phenotype:family family:1 gene:EXTL3
    10. megan_mayers 12 Aug 2019
      platyspondyly

      Monarch lookup result: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5294674/#annotations:NNq7xL0dEemwJUvA1NrCBA

      ClinGen hpoLookup monarchLookup HP:0000926 phenotype:family family:1 gene:EXTL3
    11. megan_mayers 12 Aug 2019
      EXTL3
      ClinGen gene:EXTL3 pmid:28132690
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    cell.com/ajhg/fulltext/S0002-9297(17)30013-7
  10. May 2019
  11. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6276694/
    3
    1. cthaxton 06 May 2019
      uterine leiomyomas

      Monarch lookup result: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6276694/

      ClinGen hpoLookup monarchLookup gene:MED12
    2. cthaxton 06 May 2019

      Monarch lookup result: https://monarchinitiative.org/disease/MONDO:0005635

      ClinGen hpoLookup monarchLookup gene:MED12
    3. cthaxton 06 May 2019
      MED12
      ClinGen gene:MED12 pmid:30895261 doi:10.1093/hropen/hoy020
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    ncbi.nlm.nih.gov/pmc/articles/PMC6276694/
  12. Mar 2019
  13. www.nature.com www.nature.com
    https://www.nature.com/articles/s41589-018-0177-2
    5
    1. cthaxton 28 Mar 2019
      UBE2A
      ClinGen gene:UBE2A
    2. cthaxton 12 Mar 2019
      UBE2A
      ClinGen gene:UBE2A doi:10.1038/s41589-018-0177-2
    3. cthaxton 12 Mar 2019
      UBE2A
      ClinGen gene:UBE2A doi:10.1038/s41589-018-0177-2
    4. cthaxton 12 Mar 2019
      UBE2A
      ClinGen gene:UBE2A
    5. cthaxton 11 Mar 2019
      UBE2A
      ClinGen gene:UBE2A doi:10.1038/s41589-018-0177-2
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    nature.com/articles/s41589-018-0177-2
  14. Feb 2019
  15. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3431373/
    1
    1. cthaxton 23 Feb 2019
      HNF4α
      ClinGen gene:HNF4α pmid:22952853 doi:10.1371/journal.pone.0044007
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    ncbi.nlm.nih.gov/pmc/articles/PMC3431373/
  16. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity
    2
    1. cthaxton 21 Feb 2019
      UBE2A
      ClinGen gene:UBE2A pmid:24053514 doi:10.1186/1750-1172-8-146
    2. cthaxton 21 Feb 2019
      UBE2A
      ClinGen gene:UBE2A pmid:24053514 doi:10.1186/1750-1172-8-146
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    ncbi.nlm.nih.gov/pmc/articles/PMC4015352/
  17. www.cell.com www.cell.com
    Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome
    1
    1. courtrae 13 Feb 2019
      Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome

      PMID: 28132690

      Gene: EXTL3

      Disease: Neuro-immuno-skeletal Dysplasia Syndrome

      MonDO: 0010668

      Inheritance Pattern: autosomal-recessive (maybe, check me on this, found 1st paragraph of results, but was unclear)

      ClinGen General EXTL3
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    cell.com/ajhg/fulltext/S0002-9297(17)30013-7
  18. Dec 2018
  19. www.sciencedirect.com www.sciencedirect.com
    https://www.sciencedirect.com/science/article/pii/S0168822715001709?via%3Dihub
    10
    1. cthaxton 20 Dec 2018

      ClinVar variant ID lookup result https://www.ncbi.nlm.nih.gov/clinvar/variation/156152/

      ClinGen variantIdLookup gene:HNF4A
    2. cthaxton 20 Dec 2018

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000121

      ClinGen hpoLookup monarchLookup gene:HNF4A
    3. cthaxton 20 Dec 2018

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001947

      ClinGen hpoLookup monarchLookup gene:HNF4A
    4. cthaxton 20 Dec 2018

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0004912

      ClinGen hpoLookup monarchLookup gene:HNF4A
    5. cthaxton 20 Dec 2018

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

      ClinGen hpoLookup monarchLookup gene:HNF4A
    6. cthaxton 20 Dec 2018

      Monarch lookup result: https://monarchinitiative.org/disease/MONDO:0009297

      ClinGen hpoLookup monarchLookup gene:HNF4A
    7. cthaxton 20 Dec 2018

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000124

      ClinGen hpoLookup monarchLookup gene:HNF4A
    8. cthaxton 20 Dec 2018

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

      ClinGen hpoLookup monarchLookup gene:HNF4A
    9. cthaxton 20 Dec 2018

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0005949

      ClinGen hpoLookup monarchLookup gene:HNF4A
    10. cthaxton 20 Dec 2018
      HNF4A
      ClinGen gene:HNF4A doi:10.1016/j.diabres.2015.03.005
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    sciencedirect.com/science/article/pii/S0168822715001709
  20. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    https://www.ncbi.nlm.nih.gov/clinvar/variation/156152/
    1
    1. cthaxton 20 Dec 2018

      ClinVar variant ID lookup result https://www.ncbi.nlm.nih.gov/clinvar/variation/156152/

      ClinGen variantIdLookup gene:HNF4A
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    ncbi.nlm.nih.gov/clinvar/variation/156152/
  21. Nov 2018
  22. www.cell.com www.cell.com
    PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins
    20
    1. cthaxton 14 Nov 2018

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002448

      ClinGen hpoLookup monarchLookup gene:PLAA
    2. cthaxton 12 Nov 2018

      ClinVar variant ID lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/427942/

      ClinGen variantIdLookup gene:PLAA
    3. cthaxton 12 Nov 2018

      ClinVar variant ID lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/427941/

      ClinGen variantIdLookup gene:PLAA
    4. cthaxton 12 Nov 2018

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0007375

      ClinGen hpoLookup monarchLookup gene:PLAA
    5. cthaxton 12 Nov 2018

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0012448

      ClinGen hpoLookup monarchLookup gene:PLAA
    6. cthaxton 12 Nov 2018

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0012448

      ClinGen hpoLookup monarchLookup gene:PLAA
    7. cthaxton 12 Nov 2018

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0012448

      ClinGen hpoLookup monarchLookup gene:PLAA
    8. cthaxton 12 Nov 2018

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002079

      ClinGen hpoLookup monarchLookup gene:PLAA
    9. cthaxton 12 Nov 2018

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0006532

      ClinGen hpoLookup monarchLookup gene:PLAA
    10. cthaxton 12 Nov 2018

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002104

      ClinGen hpoLookup monarchLookup gene:PLAA
    11. cthaxton 12 Nov 2018

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

      ClinGen hpoLookup monarchLookup gene:PLAA
    12. cthaxton 12 Nov 2018

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000648

      ClinGen hpoLookup monarchLookup gene:PLAA
    13. cthaxton 12 Nov 2018

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

      ClinGen hpoLookup monarchLookup gene:PLAA
    14. cthaxton 12 Nov 2018

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002191

      ClinGen hpoLookup monarchLookup gene:PLAA
    15. cthaxton 09 Nov 2018

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001007

      ClinGen hpoLookup monarchLookup gene:PLAA
    16. cthaxton 09 Nov 2018

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001999

      ClinGen hpoLookup monarchLookup gene:PLAA
    17. cthaxton 09 Nov 2018

      Mseqdr lookup result: https://mseqdr.org/hpo_browser.php?11968;

      ClinGen hpoLookup mseqdrLookup gene:PLAA
    18. cthaxton 09 Nov 2018

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003808

      ClinGen hpoLookup monarchLookup gene:PLAA
    19. cthaxton 09 Nov 2018

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

      ClinGen hpoLookup monarchLookup gene:PLAA
    20. cthaxton 09 Nov 2018
      PLAA
      ClinGen gene:PLAA pmid:28413018 doi:10.1016/j.ajhg.2017.03.008
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    cell.com/ajhg/fulltext/S0002-9297(17)30113-1
  23. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    https://www.ncbi.nlm.nih.gov/clinvar/variation/427942/
    1
    1. cthaxton 12 Nov 2018

      ClinVar variant ID lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/427942/

      ClinGen variantIdLookup gene:PLAA
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    ncbi.nlm.nih.gov/clinvar/variation/427942/
  24. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    https://www.ncbi.nlm.nih.gov/clinvar/variation/427941/
    1
    1. cthaxton 12 Nov 2018

      ClinVar variant ID lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/427941/

      ClinGen variantIdLookup gene:PLAA
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    ncbi.nlm.nih.gov/clinvar/variation/427941/
  25. Aug 2018
  26. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5537416/
    1
    1. judell 17 Aug 2018
      EXTL3
      ClinGen gene:EXTL3 pmid:28331220 doi:10.1038/jhg.2017.38
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    ncbi.nlm.nih.gov/pmc/articles/PMC5537416/
  27. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5384016/
    24
    1. cthaxton 03 Aug 2018

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0008386

      ClinGen hpoLookup monarchLookup gene:PPM1D
    2. cthaxton 03 Aug 2018

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000646

      ClinGen hpoLookup monarchLookup gene:PPM1D
    3. cthaxton 03 Aug 2018

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

      ClinGen hpoLookup monarchLookup gene:PPM1D
    4. cthaxton 03 Aug 2018

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000545

      ClinGen hpoLookup monarchLookup gene:PPM1D
    5. cthaxton 03 Aug 2018

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001647

      ClinGen hpoLookup monarchLookup gene:PPM1D
    6. cthaxton 03 Aug 2018

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002017

      ClinGen hpoLookup monarchLookup gene:PPM1D
    7. cthaxton 03 Aug 2018

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002017

      ClinGen hpoLookup monarchLookup gene:PPM1D
    8. cthaxton 03 Aug 2018

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003307

      ClinGen hpoLookup monarchLookup gene:PPM1D
    9. cthaxton 03 Aug 2018

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002013

      ClinGen hpoLookup monarchLookup gene:PPM1D
    10. cthaxton 03 Aug 2018

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002020

      ClinGen hpoLookup monarchLookup gene:PPM1D
    11. cthaxton 03 Aug 2018

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0011968

      ClinGen hpoLookup monarchLookup gene:PPM1D
    12. cthaxton 03 Aug 2018

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000154

      ClinGen hpoLookup monarchLookup gene:PPM1D
    13. cthaxton 03 Aug 2018

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000463

      ClinGen hpoLookup monarchLookup gene:PPM1D
    14. cthaxton 03 Aug 2018

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000368

      ClinGen hpoLookup monarchLookup gene:PPM1D
    15. cthaxton 03 Aug 2018

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

      ClinGen hpoLookup monarchLookup gene:PPM1D
    16. cthaxton 03 Aug 2018

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000739

      ClinGen hpoLookup monarchLookup gene:PPM1D
    17. cthaxton 03 Aug 2018

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000739

      ClinGen hpoLookup monarchLookup gene:PPM1D
    18. cthaxton 03 Aug 2018

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0010865

      ClinGen hpoLookup monarchLookup gene:PPM1D
    19. cthaxton 03 Aug 2018

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

      ClinGen hpoLookup monarchLookup gene:PPM1D
    20. cthaxton 03 Aug 2018

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002136

      ClinGen hpoLookup monarchLookup gene:PPM1D
    21. cthaxton 03 Aug 2018

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

      ClinGen hpoLookup monarchLookup gene:PPM1D
    22. cthaxton 03 Aug 2018

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP%3A0001249

      ClinGen hpoLookup monarchLookup gene:PPM1D
    23. cthaxton 03 Aug 2018

      Monarch lookup result: https://monarchinitiative.org/phenotype/MP:0009674

      ClinGen hpoLookup monarchLookup gene:PPM1D
    24. cthaxton 03 Aug 2018
      PPM1D
      ClinGen gene:PPM1D pmid:28343630 doi:10.1016/j.ajhg.2017.02.005
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    ncbi.nlm.nih.gov/pmc/articles/PMC5384016/
  28. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4800043/
    19
    1. cthaxton 03 Aug 2018

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002023

      ClinGen hpoLookup monarchLookup gene:EMC1
    2. cthaxton 03 Aug 2018

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0008755

      ClinGen hpoLookup monarchLookup gene:EMC1
    3. cthaxton 03 Aug 2018

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0007371

      ClinGen hpoLookup monarchLookup gene:EMC1
    4. cthaxton 03 Aug 2018

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0007371

      ClinGen hpoLookup monarchLookup gene:EMC1
    5. cthaxton 03 Aug 2018

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002506

      ClinGen hpoLookup monarchLookup gene:EMC1
    6. cthaxton 03 Aug 2018

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

      ClinGen hpoLookup monarchLookup gene:EMC1
    7. cthaxton 03 Aug 2018

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0100704

      ClinGen hpoLookup monarchLookup gene:EMC1
    8. cthaxton 03 Aug 2018

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002533

      ClinGen hpoLookup monarchLookup gene:EMC1
    9. cthaxton 03 Aug 2018

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003808

      ClinGen hpoLookup monarchLookup gene:EMC1
    10. cthaxton 03 Aug 2018

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

      ClinGen hpoLookup monarchLookup gene:EMC1
    11. cthaxton 03 Aug 2018

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000278

      ClinGen hpoLookup monarchLookup gene:EMC1
    12. cthaxton 03 Aug 2018

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

      ClinGen hpoLookup monarchLookup gene:EMC1
    13. cthaxton 03 Aug 2018

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000188

      ClinGen hpoLookup monarchLookup gene:EMC1
    14. cthaxton 03 Aug 2018

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

      ClinGen hpoLookup monarchLookup gene:EMC1
    15. cthaxton 03 Aug 2018

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002650

      ClinGen hpoLookup monarchLookup gene:EMC1
    16. cthaxton 03 Aug 2018

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

      ClinGen hpoLookup monarchLookup gene:EMC1
    17. cthaxton 03 Aug 2018

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

      ClinGen hpoLookup monarchLookup gene:EMC1
    18. cthaxton 03 Aug 2018

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0011342

      ClinGen hpoLookup monarchLookup gene:EMC1
    19. cthaxton 03 Aug 2018
      EMC1
      ClinGen gene:EMC1 pmid:26942288 doi:10.1016/j.ajhg.2016.01.011
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    ncbi.nlm.nih.gov/pmc/articles/PMC4800043/
  29. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5339678/
    4
    1. cthaxton 03 Aug 2018

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0004060

      ClinGen hpoLookup monarchLookup gene:EXTL3
    2. cthaxton 03 Aug 2018

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003375

      ClinGen hpoLookup monarchLookup gene:EXTL3
    3. cthaxton 03 Aug 2018

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

      ClinGen hpoLookup monarchLookup gene:EXTL3
    4. cthaxton 03 Aug 2018
      EXTL3
      ClinGen gene:EXTL3 pmid:28148688 doi:10.1084/jem.20161525
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    ncbi.nlm.nih.gov/pmc/articles/PMC5339678/
  30. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    A novel UBE2A mutation causes X-linked intellectual disability type Nascimento
    2
    1. cthaxton 01 Aug 2018

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

      ClinGen hpoLookup monarchLookup gene:UBE2A
    2. cthaxton 01 Aug 2018
      UBE2A
      ClinGen gene:UBE2A pmid:28611923 doi:10.1038/hgv.2017.19
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    ncbi.nlm.nih.gov/pmc/articles/PMC5462939/
  31. Jul 2018
  32. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5339678/
    6
    1. cthaxton 15 Jul 2018

      ClinVar variant ID lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/417794/

      ClinGen variantIdLookup gene:EXTL3
    2. cthaxton 15 Jul 2018

      ClinVar variant ID lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/417796/

      ClinGen variantIdLookup gene:EXTL3
    3. cthaxton 15 Jul 2018

      Mseqdr lookup result: https://mseqdr.org/hpo_browser.php?4060;

      ClinGen hpoLookup mseqdrLookup gene:EXTL3
    4. cthaxton 15 Jul 2018

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003375

      ClinGen hpoLookup monarchLookup gene:EXTL3
    5. cthaxton 15 Jul 2018

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

      ClinGen hpoLookup monarchLookup gene:EXTL3
    6. cthaxton 15 Jul 2018
      EXTL3
      ClinGen gene:EXTL3 pmid:28148688 doi:10.1084/jem.20161525
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    ncbi.nlm.nih.gov/pmc/articles/PMC5339678/
  33. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5537416/
    7
    1. cthaxton 15 Jul 2018

      ClinGen allele ID lookup result: https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_001440.3%3Ac.953C%3ET

      ClinGen alleleIdLookup gene:EXTL3
    2. cthaxton 15 Jul 2018
      EXTL3
      ClinGen gene:EXTL3 pmid:28331220 doi:10.1038/jhg.2017.38
    3. cthaxton 15 Jul 2018

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0005306

      ClinGen hpoLookup monarchLookup gene:EXTL3
    4. cthaxton 15 Jul 2018

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0005280

      ClinGen hpoLookup monarchLookup gene:EXTL3
    5. cthaxton 15 Jul 2018

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000520

      ClinGen hpoLookup monarchLookup gene:EXTL3
    6. cthaxton 15 Jul 2018

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000520

      ClinGen hpoLookup monarchLookup gene:EXTL3
    7. cthaxton 15 Jul 2018
      EXTL3
      ClinGen gene:EXTL3 pmid:28331220 doi:10.1038/jhg.2017.38
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    ncbi.nlm.nih.gov/pmc/articles/PMC5537416/
  34. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5347668/
    1
    1. judell 13 Jul 2018
      LINC00520
      ClinGen gene:LINC00520 pmid:27626181 doi:10.18632/oncotarget.11962
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    ncbi.nlm.nih.gov/pmc/articles/PMC5347668/
  35. Jun 2018
  36. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity
    2
    1. cthaxton 29 Jun 2018
      psychomotor development

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

      ClinGen hpoLookup monarchLookup gene:UBE2A
    2. cthaxton 29 Jun 2018
      UBE2A
      ClinGen gene:UBE2A pmid:24053514 doi:10.1186/1750-1172-8-146
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    ncbi.nlm.nih.gov/pmc/articles/PMC4015352/
  37. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5223094/
    3
    1. cthaxton 29 Jun 2018
      chronic otitis media,

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000389

      ClinGen hpoLookup monarchLookup gene:PIH1D3
    2. cthaxton 29 Jun 2018
      chronic sinusitis

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0011109

      ClinGen hpoLookup monarchLookup gene:PIH1D3
    3. cthaxton 29 Jun 2018
      PIH1D3
      ClinGen gene:PIH1D3 pmid:28041644 doi:10.1016/j.ajhg.2016.11.019
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    ncbi.nlm.nih.gov/pmc/articles/PMC5223094/
  38. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3
    1
    1. cthaxton 29 Jun 2018
      PIH1D3
      ClinGen gene:PIH1D3 pmid:28176794 doi:10.1038/ncomms14279
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    ncbi.nlm.nih.gov/pmc/articles/PMC5309803/
  39. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5537416/
    3
    1. cthaxton 28 Jun 2018
      delayed motor development

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002194

      ClinGen hpoLookup monarchLookup gene:EXTL3
    2. cthaxton 28 Jun 2018
      hyperbilirubinemia

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002904

      ClinGen hpoLookup monarchLookup gene:EXTL3
    3. cthaxton 28 Jun 2018
      EXTL3
      ClinGen gene:EXTL3 pmid:28331220 doi:10.1038/jhg.2017.38
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    ncbi.nlm.nih.gov/pmc/articles/PMC5537416/
  40. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Mutations in TMEM260 Cause a Pediatric Neurodevelopmental, Cardiac, and Renal Syndrome
    5
    1. cthaxton 27 Jun 2018
      heart murmur

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0030148

      ClinGen hpoLookup monarchLookup gene:TMEM260
    2. cthaxton 27 Jun 2018
      cyanosis

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000961

      ClinGen hpoLookup monarchLookup gene:TMEM260
    3. cthaxton 27 Jun 2018
      pulmonary venous return

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0010772

      ClinGen hpoLookup monarchLookup gene:TMEM260
    4. cthaxton 27 Jun 2018
      truncus arteriosus

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001660

      ClinGen hpoLookup monarchLookup gene:TMEM260
    5. cthaxton 27 Jun 2018
      TMEM260
      ClinGen gene:TMEM260 pmid:28318500 doi:10.1016/j.ajhg.2017.02.007
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    ncbi.nlm.nih.gov/pmc/articles/PMC5384036/
  41. bmcmedgenet.biomedcentral.com bmcmedgenet.biomedcentral.com
    https://bmcmedgenet.biomedcentral.com/articles/10.1186/1471-2350-15-48
    2
    1. cthaxton 21 Jun 2018
      arrhythmia

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0011675

      ClinGen hpoLookup monarchLookup gene:CACNA1C
    2. cthaxton 21 Jun 2018
      CACNA1C
      ClinGen gene:CACNA1C doi:10.1186/1471-2350-15-48
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    bmcmedgenet.biomedcentral.com/articles/10.1186/1471-2350-15-48
  42. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1559544/
    2
    1. cthaxton 20 Jun 2018
      Synophris

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000664

      ClinGen hpoLookup monarchLookup gene:UBE2A
    2. cthaxton 20 Jun 2018
      UBE2A
      ClinGen gene:UBE2A pmid:16909393 doi:10.1086/507047
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    ncbi.nlm.nih.gov/pmc/articles/PMC1559544/
  43. ojrd.biomedcentral.com ojrd.biomedcentral.com
    https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-8-146
    1
    1. cthaxton 20 Jun 2018
      UBE2A
      ClinGen gene:UBE2A doi:10.1186/1750-1172-8-146
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    ojrd.biomedcentral.com/articles/10.1186/1750-1172-8-146
  44. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    A Homozygous Missense Mutation in the IRBP Gene (RBP3) Associated with Autosomal Recessive Retinitis Pigmentosa
    1
    1. cthaxton 20 Jun 2018
      RBP3
      ClinGen gene:RBP3 pmid:19074801 doi:10.1167/iovs.08-2497
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    ncbi.nlm.nih.gov/pmc/articles/PMC2823395/
  45. jem.rupress.org jem.rupress.org
    EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay
    3
    1. cthaxton 20 Jun 2018
      KLHL4

      Monarch lookup result: https://www.sciencedirect.com/science/article/pii/S0888754300964784?via%3Dihub

      ClinGen hpoLookup monarchLookup gene:EXTL3
    2. cthaxton 20 Jun 2018
      KLHL4

      Monarch lookup result: https://www.sciencedirect.com/science/article/pii/S0888754300964784?via%3Dihub

      ClinGen hpoLookup monarchLookup gene:EXTL3
    3. cthaxton 20 Jun 2018
      EXTL3
      ClinGen gene:EXTL3 pmid:28148688 doi:10.1084/jem.20161525
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    jem.rupress.org/content/214/3/623
  46. Jul 2017
  47. academic.oup.com academic.oup.com
    Recessive TAF1A mutations reveal ribosomopathy in siblings with end-stage pediatric dilated cardiomyopathy
    1
    1. jsberg 20 Jul 2017

      Autosomal recessive dilated cardiomyopathy https://www.omim.org/entry/604903

      ClinGen DCM OMIM_*604903 Genetic_Evidence Functional_Evidence
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    academic.oup.com/hmg/article/26/15/2874/3788346/Recessive-TAF1A-mutations-reveal-ribosomopathy-in
  48. www.sciencedirect.com www.sciencedirect.com
    Screening of MCAD deficiency in Japan: 16years' experience of enzymatic and genetic evaluation
    1
    1. jsberg 20 Jul 2017

      Variants in MCAD gene found in Japanese patients

      ClinGen ClinGenInbornErrors
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    sciencedirect.com/science/article/pii/S1096719216301688