Hypothesis

9 Matching Annotations

Jan 2020
www.sciencedirect.com www.sciencedirect.com

https://www.sciencedirect.com/science/article/pii/S0002929719303489

5
1. megan_mayers 22 Jan 2020
  
  in Public
  
  Hypotonia
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001290
  
  ClinGen hpoLookup monarchLookup HP:0001290 hpoLookup:individual individual:4 gene:NKAP
2. megan_mayers 22 Jan 2020
  
  in Public
  
  Hypotonia
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001290
  
  ClinGen hpoLookup monarchLookup HP:0001290 hpoLookup:individual individual:3 gene:NKAP
3. megan_mayers 22 Jan 2020
  
  in Public
  
  Hypotonia
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001290
  
  ClinGen hpoLookup monarchLookup HP:0001290 hpoLookup:individual individual:2 gene:NKAP
4. megan_mayers 14 Jan 2020
  
  in Public
  
  Hypotonia
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001290
  
  ClinGen hpoLookup monarchLookup HP:0001290 hpoLookup:individual individual:1 gene:NKAP
5. megan_mayers 14 Jan 2020
  
  in Public
  
  hypotonia
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001290
  
  ClinGen hpoLookup monarchLookup HP:0001290 hpoLookup:group group:1 gene:NKAP
Visit annotations in context

Tags

hpoLookup:individual

individual:1

ClinGen

hpoLookup:group

monarchLookup

individual:2

hpoLookup

individual:3

group:1

gene:NKAP

individual:4

HP:0001290

Annotators

megan_mayers

URL

sciencedirect.com/science/article/pii/S0002929719303489
www.sciencedirect.com www.sciencedirect.com

https://www.sciencedirect.com/science/article/pii/S000292971930432X

1
1. megan_mayers 17 Jan 2020
  
  in Public
  
  Hypotonia
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001290
  
  ClinGen hpoLookup monarchLookup HP:0001290 hpoLookup:individual individual:2 gene:MN1
Visit annotations in context

Tags

gene:MN1

hpoLookup

hpoLookup:individual

ClinGen

monarchLookup

HP:0001290

individual:2

Annotators

megan_mayers

URL

sciencedirect.com/science/article/pii/S000292971930432X
Dec 2019
www.sciencedirect.com www.sciencedirect.com

https://www.sciencedirect.com/science/article/pii/S0002929719302411

2
1. megan_mayers 23 Dec 2019
  
  in Public
  
  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
  
  in Public
  
  General hypotonia
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001290
  
  ClinGen hpoLookup monarchLookup HP:0001290 hpoLookup:individual individual:1 gene:POLR2A
Visit annotations in context

Tags

gene:POLR2A

hpoLookup:individual

individual:1

ClinGen

individual:6

hpoLookup

monarchLookup

HP:0001290

Annotators

megan_mayers

URL

sciencedirect.com/science/article/pii/S0002929719302411
Sep 2019
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

1
1. cthaxton 11 Sep 2019
  
  in Public
  
  yes
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001290
  
  ClinGen hpoLookup monarchLookup HP:0001290 hpoLookup:individual individual:1 gene:FBXO11
Visit annotations in context

Tags

hpoLookup

hpoLookup:individual

individual:1

gene:FBXO11

ClinGen

monarchLookup

HP:0001290

Annotators

cthaxton

URL

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