Hypothesis

36 Matching Annotations

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

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

15
1. megan_mayers 22 Jan 2020
  
  in Public
  
  Arachnodactyly
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001166
  
  ClinGen hpoLookup monarchLookup HP:0001166 hpoLookup:individual individual:3 gene:NKAP
2. megan_mayers 22 Jan 2020
  
  in Public
  
  Camptodactyly
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0012385
  
  ClinGen hpoLookup monarchLookup HP:0012385 hpoLookup:individual individual:3 gene:NKAP
3. megan_mayers 22 Jan 2020
  
  in Public
  
  Joint laxity
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001388
  
  ClinGen hpoLookup monarchLookup HP:0001388 hpoLookup:individual individual:3 gene:NKAP
4. megan_mayers 22 Jan 2020
  
  in Public
  
  Slender limbs
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001533
  
  ClinGen hpoLookup monarchLookup HP:0001533 hpoLookup:individual individual:3 gene:NKAP
5. megan_mayers 22 Jan 2020
  
  in Public
  
  Scoliosis
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002650
  
  ClinGen hpoLookup monarchLookup HP:0002650 hpoLookup:individual individual:3 gene:NKAP
6. megan_mayers 22 Jan 2020
  
  in Public
  
  Tall stature
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000098
  
  ClinGen hpoLookup monarchLookup HP:0000098 hpoLookup:individual individual:3 gene:NKAP
7. megan_mayers 22 Jan 2020
  
  in Public
  
  mild mitral valve regurgitation
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001653
  
  ClinGen hpoLookup monarchLookup HP:0001653 hpoLookup:individual individual:3 gene:NKAP
8. megan_mayers 22 Jan 2020
  
  in Public
  
  Midface hypoplasia
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0011800
  
  ClinGen hpoLookup monarchLookup HP:0011800 hpoLookup:individual individual:3 gene:NKAP
9. megan_mayers 22 Jan 2020
  
  in Public
  
  Open mouth appearance
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000194
  
  ClinGen hpoLookup monarchLookup HP:0000194 hpoLookup:individual individual:3 gene:NKAP
10. megan_mayers 22 Jan 2020
  
  in Public
  
  Short philtrum
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000322
  
  ClinGen hpoLookup monarchLookup HP:0000322 hpoLookup:individual individual:3 gene:NKAP
11. megan_mayers 22 Jan 2020
  
  in Public
  
  Long face
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000276
  
  ClinGen hpoLookup monarchLookup HP:0000276 hpoLookup:individual individual:3 gene:NKAP
12. 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
13. megan_mayers 22 Jan 2020
  
  in Public
  
  intellectual disability
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001249
  
  ClinGen hpoLookup monarchLookup HP:0001249 hpoLookup:individual individual:3 gene:NKAP
14. 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
15. megan_mayers 22 Jan 2020
  
  in Public
  
  allele id lookup result: https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA414193300
  
  ClinGen alleleLookup allele:CA414193300 alleleLookup:individual individual:3 gene:NKAP
Visit annotations in context

Tags

HP:0001166

hpoLookup:individual

gene:NKAP

HP:0001388

HP:0001533

individual:3

alleleLookup:individual

HP:0000322

HP:0011800

HP:0012385

HP:0002650

monarchLookup

hpoLookup

HP:0000194

HP:0000276

HP:0001263

HP:0001249

HP:0001290

ClinGen

alleleLookup

allele:CA414193300

HP:0000098

HP:0001653

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 15 Jan 2020
  
  in Public
  
  allele id lookup result: https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA915940579
  
  ClinGen alleleLookup allele:CA915940579 alleleLookup:individual individual:3 gene:MN1
Visit annotations in context

Tags

alleleLookup:individual

individual:3

allele:CA915940579

ClinGen

alleleLookup

gene:MN1

Annotators

megan_mayers

URL

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

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

11
1. may_flowers 06 Jan 2020
  
  in Public
  
  allele id lookup result: http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA398915284
  
  ClinGen alleleLookup allele:CA398915284 alleleLookup:individual individual:3 gene:TAOK1
2. may_flowers 05 Jan 2020
  
  in Public
  
  3
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001947
  
  ClinGen hpoLookup monarchLookup HP:0001947 hpoLookup:individual individual:3 gene:TAOK1
3. may_flowers 05 Jan 2020
  
  in Public
  
  3
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001942
  
  ClinGen hpoLookup monarchLookup HP:0001942 hpoLookup:individual individual:3 gene:TAOK1
4. may_flowers 05 Jan 2020
  
  in Public
  
  3
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002705
  
  ClinGen hpoLookup monarchLookup HP:0002705 hpoLookup:individual individual:3 gene:TAOK1
5. may_flowers 05 Jan 2020
  
  in Public
  
  3
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000369
  
  ClinGen hpoLookup monarchLookup HP:0000369 hpoLookup:individual individual:3 gene:TAOK1
6. may_flowers 05 Jan 2020
  
  in Public
  
  3
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000325
  
  ClinGen hpoLookup monarchLookup HP:0000325 hpoLookup:individual individual:3 gene:TAOK1
7. may_flowers 05 Jan 2020
  
  in Public
  
  3
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000322
  
  ClinGen hpoLookup monarchLookup HP:0000322 hpoLookup:individual individual:3 gene:TAOK1
8. may_flowers 05 Jan 2020
  
  in Public
  
  3
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000348
  
  ClinGen hpoLookup monarchLookup HP:0000348 hpoLookup:individual individual:3 gene:TAOK1
9. may_flowers 05 Jan 2020
  
  in Public
  
  macrocephaly
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000256
  
  ClinGen hpoLookup monarchLookup HP:0000256 hpoLookup:individual individual:3 gene:TAOK1
10. may_flowers 05 Jan 2020
  
  in Public
  
  intellectual disability
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001249
  
  ClinGen hpoLookup monarchLookup HP:0001249 hpoLookup:individual individual:3 gene:TAOK1
11. 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
Visit annotations in context

Tags

hpoLookup:individual

HP:0000256

allele:CA398915284

alleleLookup:individual

individual:3

HP:0001942

HP:0000322

gene:TAOK1

HP:0000369

HP:0001947

monarchLookup

HP:0002705

hpoLookup

HP:0000348

HP:0000325

HP:0001263

HP:0001249

ClinGen

alleleLookup

Annotators

may_flowers

URL

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

https://www.sciencedirect.com/science/article/pii/S0002929719301636

1
1. may_flowers 05 Jan 2020
  
  in Public
  
  variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/692266/
  
  ClinGen variantLookup variant:692266 variantLookup:individual individual:3 gene:DNAH17
Visit annotations in context

Tags

variantLookup:individual

individual:3

ClinGen

gene:DNAH17

variantLookup

variant:692266

Annotators

may_flowers

URL

sciencedirect.com/science/article/pii/S0002929719301636
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

https://www.ncbi.nlm.nih.gov/clinvar/variation/692266/

1
1. may_flowers 05 Jan 2020
  
  in Public
  
  variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/692266/
  
  ClinGen variantLookup variant:692266 variantLookup:individual individual:3 gene:DNAH17
Visit annotations in context

Tags

variantLookup:individual

individual:3

ClinGen

gene:DNAH17

variantLookup

variant:692266

Annotators

may_flowers

URL

ncbi.nlm.nih.gov/clinvar/variation/692266/
Dec 2019
www.sciencedirect.com www.sciencedirect.com

https://www.sciencedirect.com/science/article/pii/S0002929719301983

5
1. may_flowers 20 Dec 2019
  
  in Public
  
  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
2. may_flowers 20 Dec 2019
  
  in Public
  
  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
3. may_flowers 20 Dec 2019
  
  in Public
  
  aortic insufficiency
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001659
  
  ClinGen hpoLookup monarchLookup HP:0001659 hpoLookup:individual individual:3 gene:RINT1
4. may_flowers 19 Dec 2019
  
  in Public
  
  variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/547947/
  
  ClinGen variantLookup variant:547947 variantLookup:individual individual:3 gene:RINT1
5. may_flowers 19 Dec 2019
  
  in Public
  
  variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/599396/
  
  ClinGen variantLookup variant:599396 variantLookup:individual individual:3 gene:RINT1
Visit annotations in context

Tags

HP:0001744

monarchLookup

HP:0004719

hpoLookup:individual

variant:599396

hpoLookup

individual:3

variantLookup:individual

variant:547947

ClinGen

HP:0001659

gene:RINT1

variantLookup

Annotators

may_flowers

URL

sciencedirect.com/science/article/pii/S0002929719301983
www.sciencedirect.com www.sciencedirect.com

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

2
1. may_flowers 19 Dec 2019
  
  in Public
  
  hyperkinetic
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002487
  
  ClinGen hpoLookup monarchLookup HP:0002487 hpoLookup:individual individual:3 gene:NUP214
2. may_flowers 19 Dec 2019
  
  in Public
  
  nystagmus
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000639
  
  ClinGen hpoLookup monarchLookup HP:0000639 hpoLookup:individual individual:3 gene:NUP214
Visit annotations in context

Tags

HP:0002487

monarchLookup

hpoLookup:individual

gene:NUP214

HP:0000639

hpoLookup

individual:3

ClinGen

Annotators

may_flowers

URL

sciencedirect.com/science/article/pii/S0002929719301892