Hypothesis

37 Matching Annotations

Dec 2019
www.sciencedirect.com www.sciencedirect.com

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

37
1. may_flowers 20 Dec 2019
  
  in Public
  
  acute respiratory failure
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002093
  
  ClinGen hpoLookup monarchLookup HP:0002093 hpoLookup:individual individual:1 gene:RINT1
2. 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
3. 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
4. may_flowers 20 Dec 2019
  
  in Public
  
  54.0 cm (99th percentile)
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003517
  
  ClinGen hpoLookup monarchLookup HP:0003517 hpoLookup:individual individual:2 gene:RINT1
5. 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
6. 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
7. 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
8. may_flowers 20 Dec 2019
  
  in Public
  
  +
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003170
  
  ClinGen hpoLookup monarchLookup HP:0003170 hpoLookup:individual individual:2 gene:RINT1
9. may_flowers 20 Dec 2019
  
  in Public
  
  +
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003170
  
  ClinGen hpoLookup monarchLookup HP:0003170 hpoLookup:individual individual:1 gene:RINT1
10. may_flowers 20 Dec 2019
  
  in Public
  
  Platyspondyly
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000926
  
  ClinGen hpoLookup monarchLookup HP:0000926 hpoLookup:individual individual:1 gene:RINT1
11. may_flowers 20 Dec 2019
  
  in Public
  
  +
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001395
  
  ClinGen hpoLookup monarchLookup HP:0001395 hpoLookup:individual individual:1 gene:RINT1
12. may_flowers 20 Dec 2019
  
  in Public
  
  +
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001397
  
  ClinGen hpoLookup monarchLookup HP:0001397 hpoLookup:individual individual:2 gene:RINT1
13. may_flowers 20 Dec 2019
  
  in Public
  
  +
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001397
  
  ClinGen hpoLookup monarchLookup HP:0001397 hpoLookup:individual individual:1 gene:RINT1
14. may_flowers 20 Dec 2019
  
  in Public
  
  <3rd percentile
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0004322
  
  ClinGen hpoLookup monarchLookup HP:0004322 hpoLookup:individual individual:2 gene:RINT1
15. may_flowers 19 Dec 2019
  
  in Public
  
  variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/547946/
  
  ClinGen variantLookup variant:547946 variantLookup:individual individual:1 gene:RINT1
16. may_flowers 19 Dec 2019
  
  in Public
  
  variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/692227/
  
  ClinGen variantLookup variant:692227 variantLookup:individual individual:2 gene:RINT1
17. 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:1 gene:RINT1
18. 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
19. 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
20. may_flowers 19 Dec 2019
  
  in Public
  
  variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/692228/
  
  ClinGen variantLookup variant:692228 variantLookup:individual individual:2 gene:RINT1
21. 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
22. 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
23. 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
24. 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
25. 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
26. 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
27. 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
28. 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
29. 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
30. 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
31. 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
32. may_flowers 19 Dec 2019
  
  in Public
  
  Splenomegaly
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0006268
  
  ClinGen hpoLookup monarchLookup HP:0006268 hpoLookup:individual individual:1 gene:RINT1
33. may_flowers 19 Dec 2019
  
  in Public
  
  <3rd percentile
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0004322
  
  ClinGen hpoLookup monarchLookup HP:0004322 hpoLookup:individual individual:1 gene:RINT1
34. may_flowers 19 Dec 2019
  
  in Public
  
  elevated methionine
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003235
  
  ClinGen hpoLookup monarchLookup HP:0003235 hpoLookup:individual individual:1 gene:RINT1
35. may_flowers 19 Dec 2019
  
  in Public
  
  talipes equinovarus
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001762
  
  ClinGen hpoLookup monarchLookup HP:0001762 hpoLookup:individual individual:1 gene:RINT1
36. may_flowers 19 Dec 2019
  
  in Public
  
  Neonatal jaundice
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0006579
  
  ClinGen hpoLookup monarchLookup HP:0006579 hpoLookup:individual individual:1 gene:RINT1
37. may_flowers 19 Dec 2019
  
  in Public
  
  RINT1
  
  ClinGen gene:RINT1 pmid:undefined
Visit annotations in context

Tags

HP:0031956

group:1

hpoLookup:individual

ClinGen

HP:0001397

hpoLookup

HP:0001659

variant:547947

HP:0003573

HP:0031964

individual:2

pmid:undefined

individual:1

gene:RINT1

individual:3

HP:0004719

HP:0003256

HP:0008151

HP:0006268

HP:0004322

variant:599396

HP:0010574

HP:0004582

variantLookup

HP:0003235

hpoLookup:group

HP:0001987

HP:0003517

HP:0006579

variant:692227

HP:0006554

HP:0002093

HP:0001943

HP:0000926

HP:0001744

HP:0002240

HP:0001762

HP:0008417

variant:692228

variantLookup:individual

monarchLookup

variant:547946

HP:0001395

HP:0003170

Annotators

may_flowers

URL

sciencedirect.com/science/article/pii/S0002929719301983

Tags

Annotators

URL