Hypothesis

18 Matching Annotations

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

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

6
1. megan_mayers 22 Jan 2020
  
  in Public
  
  Developmental delay
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001263
  
  ClinGen hpoLookup monarchLookup HP:0001263 hpoLookup:individual individual:5 gene:NKAP
2. megan_mayers 22 Jan 2020
  
  in Public
  
  Developmental delay
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001263
  
  ClinGen hpoLookup monarchLookup HP:0001263 hpoLookup:individual individual:4 gene:NKAP
3. megan_mayers 22 Jan 2020
  
  in Public
  
  Developmental delay
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001263
  
  ClinGen hpoLookup monarchLookup HP:0001263 hpoLookup:individual individual:3 gene:NKAP
4. megan_mayers 22 Jan 2020
  
  in Public
  
  Developmental delay
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001263
  
  ClinGen hpoLookup monarchLookup HP:0001263 hpoLookup:individual individual:2 gene:NKAP
5. megan_mayers 14 Jan 2020
  
  in Public
  
  Developmental delay
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001263
  
  ClinGen hpoLookup monarchLookup HP:0001263 hpoLookup:individual individual:1 gene:NKAP
6. megan_mayers 14 Jan 2020
  
  in Public
  
  developmental delay
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001263
  
  ClinGen hpoLookup monarchLookup HP:0001263 hpoLookup:group group:1 gene:NKAP
Visit annotations in context

Tags

monarchLookup

individual:5

group:1

individual:2

individual:3

hpoLookup

hpoLookup:individual

HP:0001263

ClinGen

individual:4

hpoLookup:group

gene:NKAP

individual:1

Annotators

megan_mayers

URL

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

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

2
1. megan_mayers 17 Jan 2020
  
  in Public
  
  Developmental delay
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001263
  
  ClinGen hpoLookup monarchLookup HP:0001263 hpoLookup:individual individual:2 gene:MN1
2. megan_mayers 15 Jan 2020
  
  in Public
  
  Developmental delay
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001263
  
  ClinGen hpoLookup monarchLookup HP:0001263 hpoLookup:individual individual:1 gene:MN1
Visit annotations in context

Tags

monarchLookup

hpoLookup

hpoLookup:individual

HP:0001263

ClinGen

individual:2

gene:MN1

individual:1

Annotators

megan_mayers

URL

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

https://www.sciencedirect.com/science/article/pii/S0002929719301910

6
1. may_flowers 05 Jan 2020
  
  in Public
  
  developmental delay
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001263
  
  ClinGen hpoLookup monarchLookup HP:0001263 hpoLookup:individual individual:7 gene:TAOK1
2. may_flowers 05 Jan 2020
  
  in Public
  
  developmental delay
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001263
  
  ClinGen hpoLookup monarchLookup HP:0001263 hpoLookup:individual individual:6 gene:TAOK1
3. may_flowers 05 Jan 2020
  
  in Public
  
  developmental delay
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001263
  
  ClinGen hpoLookup monarchLookup HP:0001263 hpoLookup:individual individual:4 gene:TAOK1
4. may_flowers 05 Jan 2020
  
  in Public
  
  developmental delay
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001263
  
  ClinGen hpoLookup monarchLookup HP:0001263 hpoLookup:individual individual:3 gene:TAOK1
5. may_flowers 05 Jan 2020
  
  in Public
  
  developmental delay
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001263
  
  ClinGen hpoLookup monarchLookup HP:0001263 hpoLookup:individual individual:2 gene:TAOK1
6. may_flowers 05 Jan 2020
  
  in Public
  
  developmental delay
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001263
  
  ClinGen hpoLookup monarchLookup HP:0001263 hpoLookup:individual individual:1 gene:TAOK1
Visit annotations in context

Tags

monarchLookup

individual:7

gene:TAOK1

individual:2

individual:3

hpoLookup

hpoLookup:individual

HP:0001263

ClinGen

individual:4

individual:6

individual:1

Annotators

may_flowers

URL

sciencedirect.com/science/article/pii/S0002929719301910
Dec 2019
www.sciencedirect.com www.sciencedirect.com

https://www.sciencedirect.com/science/article/pii/S0002929719301892

2
1. may_flowers 16 Dec 2019
  
  in Public
  
  Developmental delay
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001263
  
  ClinGen hpoLookup monarchLookup HP:0001263 hpoLookup:family family:2 gene:NUP214
2. may_flowers 16 Dec 2019
  
  in Public
  
  Developmental delay
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001263
  
  ClinGen hpoLookup monarchLookup HP:0001263 hpoLookup:family family:1 gene:NUP214
Visit annotations in context

Tags

monarchLookup

hpoLookup:family

hpoLookup

family:1

gene:NUP214

HP:0001263

ClinGen

family:2

Annotators

may_flowers

URL

sciencedirect.com/science/article/pii/S0002929719301892
Oct 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 01 Oct 2019
  
  in Public
  
  developmental delay
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001263
  
  ClinGen hpoLookup monarchLookup HP:0001263 hpoLookup:group group:1 gene:developmental delay
Visit annotations in context

Tags

monarchLookup

HP:0001263

group:1

ClinGen

gene:developmental delay

hpoLookup

hpoLookup:group

Annotators

cthaxton

URL

ncbi.nlm.nih.gov/pmc/articles/PMC6080769/
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
  
  developmental delay
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001263
  
  ClinGen hpoLookup monarchLookup HP:0001263 hpoLookup:group group:1 gene:FBXO11
Visit annotations in context

Tags

monarchLookup

HP:0001263

group:1

ClinGen

gene:FBXO11

hpoLookup:group

hpoLookup

Annotators

cthaxton

URL

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