Hypothesis

57 Matching Annotations

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

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

10
1. megan_mayers 15 Jan 2020
  
  in Public
  
  hyperphagia
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002591
  
  ClinGen hpoLookup monarchLookup HP:0002591 hpoLookup:group group:1 gene:MN1
2. megan_mayers 15 Jan 2020
  
  in Public
  
  anteverted nares
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000463
  
  ClinGen hpoLookup monarchLookup HP:0000463 hpoLookup:group group:1 gene:MN1
3. megan_mayers 15 Jan 2020
  
  in Public
  
  short nose
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003196
  
  ClinGen hpoLookup monarchLookup HP:0003196 hpoLookup:group group:1 gene:MN1
4. megan_mayers 15 Jan 2020
  
  in Public
  
  low-set ears
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000369
  
  ClinGen hpoLookup monarchLookup HP:0000369 hpoLookup:group group:1 gene:MN1
5. megan_mayers 15 Jan 2020
  
  in Public
  
  widely spaced eyes
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000316
  
  ClinGen hpoLookup monarchLookup HP:0000316 hpoLookup:group group:1 gene:MN1
6. megan_mayers 15 Jan 2020
  
  in Public
  
  thick eyebrows
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000574
  
  ClinGen hpoLookup monarchLookup HP:0000574 hpoLookup:group group:1 gene:MN1
7. megan_mayers 15 Jan 2020
  
  in Public
  
  flat face
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0012368
  
  ClinGen hpoLookup monarchLookup HP:0012368 hpoLookup:group group:1 gene:MN1
8. megan_mayers 15 Jan 2020
  
  in Public
  
  dolichocephaly
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000268
  
  ClinGen hpoLookup monarchLookup HP:0000268 hpoLookup:group group:1 gene:MN1
9. megan_mayers 15 Jan 2020
  
  in Public
  
  speech impairment
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002167
  
  ClinGen hpoLookup monarchLookup HP:0002167 hpoLookup:group group:1 gene:MN1
10. megan_mayers 15 Jan 2020
  
  in Public
  
  severe developmental delay
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0011344
  
  ClinGen hpoLookup monarchLookup HP:0011344 hpoLookup:group group:1 gene:MN1
Visit annotations in context

Tags

HP:0011344

HP:0003196

HP:0000316

gene:MN1

HP:0000463

HP:0000268

group:1

HP:0000369

HP:0002591

ClinGen

monarchLookup

HP:0000574

HP:0012368

hpoLookup:group

hpoLookup

HP:0002167

Annotators

megan_mayers

URL

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

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

23
1. megan_mayers 14 Jan 2020
  
  in Public
  
  aortic dilatation
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0004942
  
  ClinGen hpoLookup monarchLookup HP:0004942 hpoLookup:group group:1 gene:NKAP
2. megan_mayers 14 Jan 2020
  
  in Public
  
  small patent ductus arteriosus
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001643
  
  ClinGen hpoLookup monarchLookup HP:0001643 hpoLookup:group group:1 gene:NKAP
3. megan_mayers 14 Jan 2020
  
  in Public
  
  ventricular septal defect
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001629
  
  ClinGen hpoLookup monarchLookup HP:0001629 hpoLookup:group group:1 gene:NKAP
4. megan_mayers 14 Jan 2020
  
  in Public
  
  atrial septal defect
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001631
  
  ClinGen hpoLookup monarchLookup HP:0001631 hpoLookup:group group:1 gene:NKAP
5. megan_mayers 14 Jan 2020
  
  in Public
  
  mitral valve regurgitation
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001653
  
  ClinGen hpoLookup monarchLookup HP:0001653 hpoLookup:group group:1 gene:NKAP
6. megan_mayers 14 Jan 2020
  
  in Public
  
  aggressive behaviors
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000718
  
  ClinGen hpoLookup monarchLookup HP:0000718 hpoLookup:group group:1 gene:NKAP
7. megan_mayers 14 Jan 2020
  
  in Public
  
  attention deficit hyperactivity disorder
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0007018
  
  ClinGen hpoLookup monarchLookup HP:0007018 hpoLookup:group group:1 gene:NKAP
8. megan_mayers 14 Jan 2020
  
  in Public
  
  central obesity
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0012743
  
  ClinGen hpoLookup monarchLookup HP:0012743 hpoLookup:group group:1 gene:NKAP
9. megan_mayers 14 Jan 2020
  
  in Public
  
  cryptorchidism
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000028
  
  ClinGen hpoLookup monarchLookup HP:0000028 hpoLookup:group group:1 gene:NKAP
10. megan_mayers 14 Jan 2020
  
  in Public
  
  Talipes equinovarus
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001762
  
  ClinGen hpoLookup monarchLookup HP:0001762 hpoLookup:group group:1 gene:NKAP
11. megan_mayers 14 Jan 2020
  
  in Public
  
  arachnodactyly
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001166
  
  ClinGen hpoLookup monarchLookup HP:0001166 hpoLookup:group group:1 gene:NKAP
12. megan_mayers 14 Jan 2020
  
  in Public
  
  scoliosis
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002650
  
  ClinGen hpoLookup monarchLookup HP:0002650 hpoLookup:group group:1 gene:NKAP
13. megan_mayers 14 Jan 2020
  
  in Public
  
  excavatum
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000767
  
  ClinGen hpoLookup monarchLookup HP:0000767 hpoLookup:group group:1 gene:NKAP
14. megan_mayers 14 Jan 2020
  
  in Public
  
  pectus carinatum
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000768
  
  ClinGen hpoLookup monarchLookup HP:0000768 hpoLookup:group group:1 gene:NKAP
15. megan_mayers 14 Jan 2020
  
  in Public
  
  short philtrum
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000322
  
  ClinGen hpoLookup monarchLookup HP:0000322 hpoLookup:group group:1 gene:NKAP
16. megan_mayers 14 Jan 2020
  
  in Public
  
  large ears
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000400
  
  ClinGen hpoLookup monarchLookup HP:0000400 hpoLookup:group group:1 gene:NKAP
17. megan_mayers 14 Jan 2020
  
  in Public
  
  midface hypoplasia
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0011800
  
  ClinGen hpoLookup monarchLookup HP:0011800 hpoLookup:group group:1 gene:NKAP
18. megan_mayers 14 Jan 2020
  
  in Public
  
  open-mouth appearance
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000194
  
  ClinGen hpoLookup monarchLookup HP:0000194 hpoLookup:group group:1 gene:NKAP
19. megan_mayers 14 Jan 2020
  
  in Public
  
  long face
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000276
  
  ClinGen hpoLookup monarchLookup HP:0000276 hpoLookup:group group:1 gene:NKAP
20. 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
21. megan_mayers 14 Jan 2020
  
  in Public
  
  tall stature
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000098
  
  ClinGen hpoLookup monarchLookup HP:0000098 hpoLookup:group group:1 gene:NKAP
22. megan_mayers 14 Jan 2020
  
  in Public
  
  intellectual disability (ID)
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001249
  
  ClinGen hpoLookup monarchLookup HP:0001249 hpoLookup:group group:1 gene:NKAP
23. 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

HP:0001629

HP:0004942

HP:0001653

HP:0000322

HP:0000400

HP:0000768

HP:0000028

HP:0001290

HP:0001249

HP:0007018

group:1

HP:0001631

HP:0012743

HP:0001643

HP:0002650

gene:NKAP

HP:0011800

HP:0000194

HP:0000276

HP:0000098

ClinGen

monarchLookup

HP:0000767

HP:0000718

HP:0001263

hpoLookup:group

HP:0001762

hpoLookup

HP:0001166

Annotators

megan_mayers

URL

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

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

4
1. may_flowers 05 Jan 2020
  
  in Public
  
  absent
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0032558
  
  ClinGen hpoLookup monarchLookup HP:0032558 hpoLookup:group group:1 gene:DNAH17
2. may_flowers 05 Jan 2020
  
  in Public
  
  coiled
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0032560
  
  ClinGen hpoLookup monarchLookup HP:0032560 hpoLookup:group group:1 gene:DNAH17
3. may_flowers 05 Jan 2020
  
  in Public
  
  short
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0032559
  
  ClinGen hpoLookup monarchLookup HP:0032559 hpoLookup:group group:1 gene:DNAH17
4. may_flowers 05 Jan 2020
  
  in Public
  
  asthenozoospermia
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0012207
  
  ClinGen hpoLookup monarchLookup HP:0012207 hpoLookup:group group:1 gene:DNAH17
Visit annotations in context

Tags

HP:0032559

group:1

HP:0032560

ClinGen

monarchLookup

HP:0032558

gene:DNAH17

hpoLookup:group

hpoLookup

HP:0012207

Annotators

may_flowers

URL

sciencedirect.com/science/article/pii/S0002929719301636
Dec 2019
www.sciencedirect.com www.sciencedirect.com

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

13
1. may_flowers 20 Dec 2019
  
  in Public
  
  coagulopathy
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003256
  
  ClinGen hpoLookup monarchLookup HP:0003256 hpoLookup:group group:1 gene:RINT1
2. may_flowers 20 Dec 2019
  
  in Public
  
  hyperammonemia
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001987
  
  ClinGen hpoLookup monarchLookup HP:0001987 hpoLookup:group group:1 gene:RINT1
3. may_flowers 19 Dec 2019
  
  in Public
  
  Abnormal femoral head epiphysis
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0010574
  
  ClinGen hpoLookup monarchLookup HP:0010574 hpoLookup:group group:1 gene:RINT1
4. may_flowers 19 Dec 2019
  
  in Public
  
  Irregular vertebrae
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0004582
  
  ClinGen hpoLookup monarchLookup HP:0004582 hpoLookup:group group:1 gene:RINT1
5. may_flowers 19 Dec 2019
  
  in Public
  
  Hypoplastic vertebrae
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0008417
  
  ClinGen hpoLookup monarchLookup HP:0008417 hpoLookup:group group:1 gene:RINT1
6. may_flowers 19 Dec 2019
  
  in Public
  
  INR
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0008151
  
  ClinGen hpoLookup monarchLookup HP:0008151 hpoLookup:group group:1 gene:RINT1
7. may_flowers 19 Dec 2019
  
  in Public
  
  RALF
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0006554
  
  ClinGen hpoLookup monarchLookup HP:0006554 hpoLookup:group group:1 gene:RINT1
8. may_flowers 19 Dec 2019
  
  in Public
  
  Hepatomegaly
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002240
  
  ClinGen hpoLookup monarchLookup HP:0002240 hpoLookup:group group:1 gene:RINT1
9. may_flowers 19 Dec 2019
  
  in Public
  
  Prothrombin time
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0008151
  
  ClinGen hpoLookup monarchLookup HP:0008151 hpoLookup:group group:1 gene:RINT1
10. may_flowers 19 Dec 2019
  
  in Public
  
  Total bilirubin
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003573
  
  ClinGen hpoLookup monarchLookup HP:0003573 hpoLookup:group group:1 gene:RINT1
11. may_flowers 19 Dec 2019
  
  in Public
  
  AST
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0031956
  
  ClinGen hpoLookup monarchLookup HP:0031956 hpoLookup:group group:1 gene:RINT1
12. may_flowers 19 Dec 2019
  
  in Public
  
  ALT
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0031964
  
  ClinGen hpoLookup monarchLookup HP:0031964 hpoLookup:group group:1 gene:RINT1
13. may_flowers 19 Dec 2019
  
  in Public
  
  Glucose
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001943
  
  ClinGen hpoLookup monarchLookup HP:0001943 hpoLookup:group group:1 gene:RINT1
Visit annotations in context

Tags

HP:0010574

HP:0031964

HP:0006554

gene:RINT1

HP:0001943

HP:0003573

group:1

HP:0003256

HP:0004582

HP:0008151

HP:0031956

HP:0002240

ClinGen

monarchLookup

HP:0008417

HP:0001987

hpoLookup:group

hpoLookup

Annotators

may_flowers

URL

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

https://www.sciencedirect.com/science/article/pii/S0002929719302733?via%3Dihub

1
1. cthaxton 05 Dec 2019
  
  in Public
  
  ID
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001249
  
  ClinGen hpoLookup monarchLookup HP:0001249 hpoLookup:group group:1 gene:DDX6
Visit annotations in context

Tags

ClinGen

monarchLookup

gene:DDX6

group:1

hpoLookup:group

hpoLookup

HP:0001249

Annotators

cthaxton

URL

sciencedirect.com/science/article/pii/S0002929719302733
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

ClinGen

monarchLookup

group:1

HP:0001263

hpoLookup:group

hpoLookup

gene:developmental delay

Annotators

cthaxton

URL

ncbi.nlm.nih.gov/pmc/articles/PMC6080769/
onlinelibrary.wiley.com onlinelibrary.wiley.com

https://onlinelibrary.wiley.com/doi/full/10.1111/cge.13608

1
1. cthaxton 01 Oct 2019
  
  in Public
  
  progressive microcephaly
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000252
  
  ClinGen hpoLookup monarchLookup HP:0000252 hpoLookup:group group:1 gene:PLAA
Visit annotations in context

Tags

ClinGen

monarchLookup

HP:0000252

group:1

hpoLookup:group

hpoLookup

gene:PLAA

Annotators

cthaxton

URL

onlinelibrary.wiley.com/doi/full/10.1111/cge.13608
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

4
1. cthaxton 11 Sep 2019
  
  in Public
  
  Facial dysmorphisms
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP%3A0000271
  
  ClinGen hpoLookup monarchLookup HP%3A0000271 hpoLookup:group group:1 gene:FBXO11
2. cthaxton 11 Sep 2019
  
  in Public
  
  sleeping difficulties
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002360
  
  ClinGen hpoLookup monarchLookup HP:0002360 hpoLookup:group group:1 gene:FBXO11
3. cthaxton 11 Sep 2019
  
  in Public
  
  Behavioral abnormalities
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000708
  
  ClinGen hpoLookup monarchLookup HP:0000708 hpoLookup:group group:1 gene:FBXO11
4. 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

HP:0002360

group:1

HP%3A0000271

ClinGen

monarchLookup

gene:FBXO11

HP:0000708

HP:0001263

hpoLookup:group

hpoLookup

Annotators

cthaxton

URL

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