Hypothesis

565 Matching Annotations

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

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

39
1. may_flowers 05 Jan 2020
  
  in Public
  
  2
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000717
  
  ClinGen hpoLookup monarchLookup HP:0000717 hpoLookup:individual individual:2 gene:TAOK1
2. may_flowers 05 Jan 2020
  
  in Public
  
  5
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000736
  
  ClinGen hpoLookup monarchLookup HP:0000736 hpoLookup:individual individual:5 gene:TAOK1
3. may_flowers 05 Jan 2020
  
  in Public
  
  1
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000736
  
  ClinGen hpoLookup monarchLookup HP:0000736 hpoLookup:individual individual:1 gene:TAOK1
4. may_flowers 05 Jan 2020
  
  in Public
  
  5
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0007018
  
  ClinGen hpoLookup monarchLookup HP:0007018 hpoLookup:individual individual:5 gene:TAOK1
5. may_flowers 05 Jan 2020
  
  in Public
  
  1
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0007018
  
  ClinGen hpoLookup monarchLookup HP:0007018 hpoLookup:individual individual:1 gene:TAOK1
6. may_flowers 05 Jan 2020
  
  in Public
  
  5
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001265
  
  ClinGen hpoLookup monarchLookup HP:0001265 hpoLookup:individual individual:5 gene:TAOK1
7. may_flowers 05 Jan 2020
  
  in Public
  
  1
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000639
  
  ClinGen hpoLookup monarchLookup HP:0000639 hpoLookup:individual individual:1 gene:TAOK1
8. may_flowers 05 Jan 2020
  
  in Public
  
  1
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000540
  
  ClinGen hpoLookup monarchLookup HP:0000540 hpoLookup:individual individual:1 gene:TAOK1
9. may_flowers 05 Jan 2020
  
  in Public
  
  1
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000505
  
  ClinGen hpoLookup monarchLookup HP:0000505 hpoLookup:individual individual:1 gene:TAOK1
10. may_flowers 05 Jan 2020
  
  in Public
  
  1
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000407
  
  ClinGen hpoLookup monarchLookup HP:0000407 hpoLookup:individual individual:1 gene:TAOK1
11. may_flowers 05 Jan 2020
  
  in Public
  
  muscular hypotonia
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001252
  
  ClinGen hpoLookup monarchLookup HP:0001252 hpoLookup:individual individual:8 gene:TAOK1
12. may_flowers 05 Jan 2020
  
  in Public
  
  muscular hypotonia
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001252
  
  ClinGen hpoLookup monarchLookup HP:0001252 hpoLookup:individual individual:7 gene:TAOK1
13. may_flowers 05 Jan 2020
  
  in Public
  
  muscular hypotonia
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001252
  
  ClinGen hpoLookup monarchLookup HP:0001252 hpoLookup:individual individual:6 gene:TAOK1
14. may_flowers 05 Jan 2020
  
  in Public
  
  muscular hypotonia
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001252
  
  ClinGen hpoLookup monarchLookup HP:0001252 hpoLookup:individual individual:5 gene:TAOK1
15. may_flowers 05 Jan 2020
  
  in Public
  
  muscular hypotonia
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001252
  
  ClinGen hpoLookup monarchLookup HP:0001252 hpoLookup:individual individual:2 gene:TAOK1
16. may_flowers 05 Jan 2020
  
  in Public
  
  muscular hypotonia
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001252
  
  ClinGen hpoLookup monarchLookup HP:0001252 hpoLookup:individual individual:1 gene:TAOK1
17. may_flowers 05 Jan 2020
  
  in Public
  
  seizures
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001250
  
  ClinGen hpoLookup monarchLookup HP:0001250 hpoLookup:individual individual:4 gene:TAOK1
18. 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:7 gene:TAOK1
19. 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:6 gene:TAOK1
20. 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:4 gene:TAOK1
21. 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
22. may_flowers 05 Jan 2020
  
  in Public
  
  motor development
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001270
  
  ClinGen hpoLookup monarchLookup HP:0001270 hpoLookup:individual individual:8 gene:TAOK1
23. may_flowers 05 Jan 2020
  
  in Public
  
  motor development
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001270
  
  ClinGen hpoLookup monarchLookup HP:0001270 hpoLookup:individual individual:7 gene:TAOK1
24. may_flowers 05 Jan 2020
  
  in Public
  
  motor development
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001270
  
  ClinGen hpoLookup monarchLookup HP:0001270 hpoLookup:individual individual:6 gene:TAOK1
25. may_flowers 05 Jan 2020
  
  in Public
  
  motor development
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001270
  
  ClinGen hpoLookup monarchLookup HP:0001270 hpoLookup:individual individual:5 gene:TAOK1
26. may_flowers 05 Jan 2020
  
  in Public
  
  motor development
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001270
  
  ClinGen hpoLookup monarchLookup HP:0001270 hpoLookup:individual individual:2 gene:TAOK1
27. may_flowers 05 Jan 2020
  
  in Public
  
  motor development
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001270
  
  ClinGen hpoLookup monarchLookup HP:0001270 hpoLookup:individual individual:1 gene:TAOK1
28. may_flowers 05 Jan 2020
  
  in Public
  
  speech and language development
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000750
  
  ClinGen hpoLookup monarchLookup HP:0000750 hpoLookup:individual individual:8 gene:TAOK1
29. may_flowers 05 Jan 2020
  
  in Public
  
  speech and language development
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000750
  
  ClinGen hpoLookup monarchLookup HP:0000750 hpoLookup:individual individual:7 gene:TAOK1
30. may_flowers 05 Jan 2020
  
  in Public
  
  speech and language development
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000750
  
  ClinGen hpoLookup monarchLookup HP:0000750 hpoLookup:individual individual:6 gene:TAOK1
31. may_flowers 05 Jan 2020
  
  in Public
  
  speech and language development
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000750
  
  ClinGen hpoLookup monarchLookup HP:0000750 hpoLookup:individual individual:2 gene:TAOK1
32. may_flowers 05 Jan 2020
  
  in Public
  
  speech and language development
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000750
  
  ClinGen hpoLookup monarchLookup HP:0000750 hpoLookup:individual individual:1 gene:TAOK1
33. 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
34. 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
35. 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
36. 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
37. 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
38. 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
39. may_flowers 05 Jan 2020
  
  in Public
  
  TAOK1
  
  ClinGen gene:TAOK1 pmid:undefined
Visit annotations in context

Tags

HP:0000505

individual:4

HP:0000736

HP:0001263

gene:TAOK1

pmid:undefined

individual:5

HP:0001249

monarchLookup

HP:0000639

individual:7

individual:2

HP:0000540

individual:6

individual:1

HP:0001250

HP:0001265

hpoLookup

HP:0000407

HP:0001270

HP:0000750

individual:3

hpoLookup:individual

HP:0001252

individual:8

HP:0007018

HP:0000717

ClinGen

Annotators

may_flowers

URL

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

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

12
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
2. may_flowers 05 Jan 2020
  
  in Public
  
  variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/692269/
  
  ClinGen variantLookup variant:692269 variantLookup:individual individual:4 gene:DNAH17
3. may_flowers 05 Jan 2020
  
  in Public
  
  variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/692269/
  
  ClinGen variantLookup variant:692269 variantLookup:individual individual:4 gene:DNAH17
4. 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:2 gene:DNAH17
5. may_flowers 05 Jan 2020
  
  in Public
  
  variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/692268/
  
  ClinGen variantLookup variant:692268 variantLookup:individual individual:1 gene:DNAH17
6. may_flowers 05 Jan 2020
  
  in Public
  
  allele id lookup result: http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA8805224
  
  ClinGen alleleLookup allele:CA8805224 alleleLookup:individual individual:1 gene:DNAH17
7. 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
8. 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
9. 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
10. 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
11. may_flowers 05 Jan 2020
  
  in Public
  
  primary infertility
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003251
  
  ClinGen hpoLookup monarchLookup HP:0003251 hpoLookup:individual individual:1 gene:DNAH17
12. may_flowers 05 Jan 2020
  
  in Public
  
  DNAH17
  
  ClinGen gene:DNAH17 pmid:undefined
Visit annotations in context

Tags

HP:0032560

HP:0032559

variant:692269

alleleLookup

allele:CA8805224

individual:4

variant:692268

variant:692266

hpoLookup:group

pmid:undefined

HP:0003251

monarchLookup

variantLookup:individual

gene:DNAH17

individual:2

HP:0012207

HP:0032558

individual:1

alleleLookup:individual

hpoLookup

individual:3

hpoLookup:individual

group:1

variantLookup

ClinGen

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/

2
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
2. 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:1 gene:DNAH17
Visit annotations in context

Tags

individual:1

individual:3

variant:692266

variantLookup

gene:DNAH17

variantLookup:individual

ClinGen

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/S0002929719302411

3
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
3. megan_mayers 23 Dec 2019
  
  in Public
  
  POLR2A
  
  ClinGen gene:POLR2A pmid:undefined
Visit annotations in context

Tags

individual:1

gene:POLR2A

hpoLookup

HP:0001290

hpoLookup:individual

pmid:undefined

monarchLookup

ClinGen

individual:6

Annotators

megan_mayers

URL

sciencedirect.com/science/article/pii/S0002929719302411
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

variant:547947

HP:0004322

HP:0000926

variantLookup:individual

individual:2

individual:1

HP:0001762

HP:0001744

variant:692227

hpoLookup

individual:3

hpoLookup:individual

HP:0004719

group:1

HP:0008151

HP:0003170

HP:0004582

HP:0010574

HP:0003573

HP:0006268

ClinGen

HP:0002240

HP:0006554

HP:0002093

HP:0001395

hpoLookup:group

pmid:undefined

HP:0001943

HP:0008417

monarchLookup

gene:RINT1

HP:0031956

HP:0001397

HP:0031964

HP:0003256

variant:547946

HP:0003235

HP:0003517

HP:0001987

variant:599396

HP:0006579

variant:692228

variantLookup

HP:0001659

Annotators

may_flowers

URL

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

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

33
1. may_flowers 19 Dec 2019
  
  in Public
  
  variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/634925/
  
  ClinGen variantLookup variant:634925 variantLookup:family family:2 gene:NUP214
2. may_flowers 19 Dec 2019
  
  in Public
  
  failure to thrive
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001508
  
  ClinGen hpoLookup monarchLookup HP:0001508 hpoLookup:individual individual:4 gene:NUP214
3. 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
4. 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
5. may_flowers 19 Dec 2019
  
  in Public
  
  right esotropia
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000565
  
  ClinGen hpoLookup monarchLookup HP:0000565 hpoLookup:individual individual:2 gene:NUP214
6. may_flowers 19 Dec 2019
  
  in Public
  
  cortical edema
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002181
  
  ClinGen hpoLookup monarchLookup HP:0002181 hpoLookup:individual individual:2 gene:NUP214
7. may_flowers 19 Dec 2019
  
  in Public
  
  downward gaze deviation
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0025330
  
  ClinGen hpoLookup monarchLookup HP:0025330 hpoLookup:individual individual:2 gene:NUP214
8. may_flowers 19 Dec 2019
  
  in Public
  
  tongue thrusting
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0100703
  
  ClinGen hpoLookup monarchLookup HP:0100703 hpoLookup:individual individual:2 gene:NUP214
9. may_flowers 19 Dec 2019
  
  in Public
  
  axial hypotonia
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0008936
  
  ClinGen hpoLookup monarchLookup HP:0008936 hpoLookup:individual individual:2 gene:NUP214
10. may_flowers 16 Dec 2019
  
  in Public
  
  appendicular spasticity
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001257
  
  ClinGen hpoLookup monarchLookup HP:0001257 hpoLookup:individual individual:1 gene:NUP214
11. may_flowers 16 Dec 2019
  
  in Public
  
  could not verbalize
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002300
  
  ClinGen hpoLookup monarchLookup HP:0002300 hpoLookup:individual individual:1 gene:NUP214
12. may_flowers 16 Dec 2019
  
  in Public
  
  lost voluntary mobility
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003470
  
  ClinGen hpoLookup monarchLookup HP:0003470 hpoLookup:individual individual:1 gene:NUP214
13. may_flowers 16 Dec 2019
  
  in Public
  
  bilateral nonsynchronous spikes
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002353
  
  ClinGen hpoLookup monarchLookup HP:0002353 hpoLookup:individual individual:1 gene:NUP214
14. may_flowers 16 Dec 2019
  
  in Public
  
  short non-provoked generalized tonic-clonic seizures
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002069
  
  ClinGen hpoLookup monarchLookup HP:0002069 hpoLookup:individual individual:1 gene:NUP214
15. may_flowers 16 Dec 2019
  
  in Public
  
  intractable epilepsy
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001250
  
  ClinGen hpoLookup monarchLookup HP:0001250 hpoLookup:individual individual:1 gene:NUP214
16. may_flowers 16 Dec 2019
  
  in Public
  
  ataxia
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001251
  
  ClinGen hpoLookup monarchLookup HP:0001251 hpoLookup:individual individual:1 gene:NUP214
17. may_flowers 16 Dec 2019
  
  in Public
  
  status epilepticus
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002133
  
  ClinGen hpoLookup monarchLookup HP:0002133 hpoLookup:family family:2 gene:NUP214
18. may_flowers 16 Dec 2019
  
  in Public
  
  Hyponatremia
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002902
  
  ClinGen hpoLookup monarchLookup HP:0002902 hpoLookup:family family:2 gene:NUP214
19. may_flowers 16 Dec 2019
  
  in Public
  
  Cerebellar atrophy
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001272
  
  ClinGen hpoLookup monarchLookup HP:0001272 hpoLookup:family family:2 gene:NUP214
20. may_flowers 16 Dec 2019
  
  in Public
  
  Myoclonic jerks
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001336
  
  ClinGen hpoLookup monarchLookup HP:0001336 hpoLookup:family family:2 gene:NUP214
21. may_flowers 16 Dec 2019
  
  in Public
  
  Ataxia
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001251
  
  ClinGen hpoLookup monarchLookup HP:0001251 hpoLookup:family family:2 gene:NUP214
22. may_flowers 16 Dec 2019
  
  in Public
  
  Hypotonia
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001252
  
  ClinGen hpoLookup monarchLookup HP:0001252 hpoLookup:family family:2 gene:NUP214
23. may_flowers 16 Dec 2019
  
  in Public
  
  Progressive microcephaly
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000253
  
  ClinGen hpoLookup monarchLookup HP:0000253 hpoLookup:family family:2 gene:NUP214
24. may_flowers 16 Dec 2019
  
  in Public
  
  Developmental regression
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002376
  
  ClinGen hpoLookup monarchLookup HP:0002376 hpoLookup:family family:2 gene:NUP214
25. 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
26. may_flowers 16 Dec 2019
  
  in Public
  
  Myoclonic jerks
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001336
  
  ClinGen hpoLookup monarchLookup HP:0001336 hpoLookup:family family:1 gene:NUP214
27. may_flowers 16 Dec 2019
  
  in Public
  
  encephalopathy
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001298
  
  ClinGen hpoLookup monarchLookup HP:0001298 hpoLookup:family family:1 gene:NUP214
28. may_flowers 16 Dec 2019
  
  in Public
  
  Hyponatremia
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002902
  
  ClinGen hpoLookup monarchLookup HP:0002902 hpoLookup:family family:1 gene:NUP214
29. may_flowers 16 Dec 2019
  
  in Public
  
  Cerebellar atrophy
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001272
  
  ClinGen hpoLookup monarchLookup HP:0001272 hpoLookup:family family:1 gene:NUP214
30. may_flowers 16 Dec 2019
  
  in Public
  
  Progressive microcephaly
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000253
  
  ClinGen hpoLookup monarchLookup HP:0000253 hpoLookup:family family:1 gene:NUP214
31. may_flowers 16 Dec 2019
  
  in Public
  
  Developmental regression
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002376
  
  ClinGen hpoLookup monarchLookup HP:0002376 hpoLookup:family family:1 gene:NUP214
32. 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
33. may_flowers 16 Dec 2019
  
  in Public
  
  NUP214
  
  ClinGen gene:NUP214 pmid:undefined
Visit annotations in context

Tags

family:1

HP:0000565

HP:0008936

individual:4

variantLookup:family

HP:0001263

HP:0001272

individual:2

family:2

individual:1

variant:634925

HP:0002487

HP:0002133

HP:0002376

HP:0001250

hpoLookup

HP:0001251

individual:3

hpoLookup:individual

HP:0003470

ClinGen

HP:0000253

HP:0002300

pmid:undefined

HP:0100703

HP:0001298

monarchLookup

HP:0000639

gene:NUP214

HP:0025330

hpoLookup:family

HP:0002181

HP:0002069

HP:0001252

HP:0001336

HP:0002353

variantLookup

HP:0002902

HP:0001257

HP:0001508

Annotators

may_flowers

URL

sciencedirect.com/science/article/pii/S0002929719301892
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

https://www.ncbi.nlm.nih.gov/clinvar/variation/545116/

2
1. may_flowers 19 Dec 2019
  
  in Public
  
  variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/634924/
  
  ClinGen variantLookup variant:634924 variantLookup:family family:2 gene:NUP214
2. may_flowers 19 Dec 2019
  
  in Public
  
  variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/545116/
  
  ClinGen variantLookup variant:545116 variantLookup:family family:1 gene:NUP214
Visit annotations in context

Tags

variant:634924

family:1

variantLookup:family

variant:545116

variantLookup

gene:NUP214

ClinGen

family:2

Annotators

may_flowers

URL

ncbi.nlm.nih.gov/clinvar/variation/545116/
www.sciencedirect.com www.sciencedirect.com

https://www.sciencedirect.com/science/article/pii/S0002929719303489?via%3Dihub

2
1. megan_mayers 16 Dec 2019
  
  in Public
  
  NKAP
  
  ClinGen gene:NKAP pmid:undefined
2. megan_mayers 13 Dec 2019
  
  in Public
  
  NKAP
  
  ClinGen gene:NKAP pmid:undefined
Visit annotations in context

Tags

pmid:undefined

ClinGen

gene:NKAP

Annotators

megan_mayers

URL

sciencedirect.com/science/article/pii/S0002929719303489
monarchinitiative.org monarchinitiative.org

https://monarchinitiative.org/disease/MONDO:0005027

1
1. may_flowers 16 Dec 2019
  
  in Public
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001250
  
  ClinGen hpoLookup monarchLookup HP:0001250 hpoLookup:family family:2 gene:NUP214
Visit annotations in context

Tags

hpoLookup:family

gene:NUP214

HP:0001250

monarchLookup

hpoLookup

ClinGen

family:2

Annotators

may_flowers

URL

monarchinitiative.org/disease/MONDO:0005027
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6376703/

3
1. may_flowers 16 Dec 2019
  
  in Public
  
  atrophy
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP%3A0003202
  
  ClinGen hpoLookup monarchLookup HP%3A0003202 hpoLookup:individual individual:1 gene:SGCA
2. may_flowers 16 Dec 2019
  
  in Public
  
  progressive muscle weakness
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003323
  
  ClinGen hpoLookup monarchLookup HP:0003323 hpoLookup:individual individual:1 gene:SGCA
3. may_flowers 16 Dec 2019
  
  in Public
  
  SGCA
  
  ClinGen gene:SGCA pmid:30764848
Visit annotations in context

Tags

individual:1

HP%3A0003202

hpoLookup

pmid:30764848

hpoLookup:individual

monarchLookup

HP:0003323

gene:SGCA

ClinGen

Annotators

may_flowers

URL

ncbi.nlm.nih.gov/pmc/articles/PMC6376703/
www.sciencedirect.com www.sciencedirect.com

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

1
1. may_flowers 13 Dec 2019
  
  in Public
  
  NKAP
  
  ClinGen gene:NKAP pmid:undefined
Visit annotations in context

Tags

pmid:undefined

ClinGen

gene:NKAP

Annotators

may_flowers

URL

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

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

9
1. cthaxton 05 Dec 2019
  
  in Public
  
  Small head circumference
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000252
  
  ClinGen hpoLookup monarchLookup HP:0000252 hpoLookup:individual individual:1 gene:DDX6
2. cthaxton 05 Dec 2019
  
  in Public
  
  Speech delay
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000750
  
  ClinGen hpoLookup monarchLookup HP:0000750 hpoLookup:individual individual:1 gene:DDX6
3. 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
4. cthaxton 05 Dec 2019
  
  in Public
  
  DDX6
  
  ClinGen gene:DDX6 pmid:undefined
5. cthaxton 05 Dec 2019
  
  in Public
  
  ID
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001249
  
  ClinGen hpoLookup monarchLookup HP:0001249 hpoLookup:individual individual:1 gene:DDX6
6. mjairath 05 Dec 2019
  
  in Public
  
  DDX6
  
  ClinGen gene:DDX6 pmid:undefined
7. megan_mayers 05 Dec 2019
  
  in Public
  
  DDX6
  
  ClinGen gene:DDX6 pmid:undefined
8. cthaxton 05 Dec 2019
  
  in Public
  
  DDX6
  
  ClinGen gene:DDX6 pmid:undefined
9. mjairath 05 Dec 2019
  
  in Public
  
  DDX6
  
  ClinGen gene:DDX6 pmid:undefined
Visit annotations in context

Tags

HP:0000252

hpoLookup:group

pmid:undefined

HP:0001249

monarchLookup

individual:1

hpoLookup

HP:0000750

hpoLookup:individual

group:1

ClinGen

gene:DDX6

Annotators

cthaxton

megan_mayers

mjairath

URL

sciencedirect.com/science/article/pii/S0002929719302733
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4200603/

1
1. may_flowers 05 Dec 2019
  
  in Public
  
  TPM2
  
  ClinGen gene:TPM2 pmid:24692096
Visit annotations in context

Tags

gene:TPM2

pmid:24692096

ClinGen

Annotators

may_flowers

URL

ncbi.nlm.nih.gov/pmc/articles/PMC4200603/
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4200603/?AAAGH

1
1. may_flowers 05 Dec 2019
  
  in Public
  
  TPM2
  
  ClinGen gene:TPM2 pmid:24692096
Visit annotations in context

Tags

gene:TPM2

pmid:24692096

ClinGen

Annotators

may_flowers

URL

ncbi.nlm.nih.gov/pmc/articles/PMC4200603/
Nov 2019
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant

25
1. mjairath 19 Nov 2019
  
  in Public
  
  hypertrophy of slow fibres
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP%3A0100293
  
  ClinGen hpoLookup monarchLookup HP%3A0100293 hpoLookup:individual individual:1 gene:TNNT3
2. mjairath 19 Nov 2019
  
  in Public
  
  fibre degeneration
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0100295
  
  ClinGen hpoLookup monarchLookup HP:0100295 hpoLookup:individual individual:1 gene:TNNT3
3. mjairath 19 Nov 2019
  
  in Public
  
  interstitial fibrosis
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002206
  
  ClinGen hpoLookup monarchLookup HP:0002206 hpoLookup:individual individual:1 gene:TNNT3
4. mjairath 19 Nov 2019
  
  in Public
  
  hypertrophy of Type 1 (slow) fibres
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP%3A0100293
  
  ClinGen hpoLookup monarchLookup HP%3A0100293 hpoLookup:individual individual:1 gene:TNNT3
5. mjairath 19 Nov 2019
  
  in Public
  
  nemaline rods
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003798
  
  ClinGen hpoLookup monarchLookup HP:0003798 hpoLookup:individual individual:1 gene:TNNT3
6. mjairath 19 Nov 2019
  
  in Public
  
  selective and marked atrophy of Type 2 (fast) fibres
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003554
  
  ClinGen hpoLookup monarchLookup HP:0003554 hpoLookup:individual individual:1 gene:TNNT3
7. mjairath 19 Nov 2019
  
  in Public
  
  nasogastric tube feedin
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0040288
  
  ClinGen hpoLookup monarchLookup HP:0040288 hpoLookup:individual individual:1 gene:TNNT3
8. mjairath 19 Nov 2019
  
  in Public
  
  bulbar weakness
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001283
  
  ClinGen hpoLookup monarchLookup HP:0001283 hpoLookup:individual individual:1 gene:TNNT3
9. mjairath 19 Nov 2019
  
  in Public
  
  non-invasive ventilation
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP%3A0004887
  
  ClinGen hpoLookup monarchLookup HP%3A0004887 hpoLookup:individual individual:1 gene:TNNT3
10. mjairath 19 Nov 2019
  
  in Public
  
  respiratory muscle weakness
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002747
  
  ClinGen hpoLookup monarchLookup HP:0002747 hpoLookup:individual individual:1 gene:TNNT3
11. mjairath 19 Nov 2019
  
  in Public
  
  thoracic scoliosis
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002943
  
  ClinGen hpoLookup monarchLookup HP:0002943 hpoLookup:individual individual:1 gene:TNNT3
12. mjairath 19 Nov 2019
  
  in Public
  
  thoracic scoliosis
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002943
  
  ClinGen hpoLookup monarchLookup HP:0002943 hpoLookup:individual individual:1 gene:TNNT3
13. mjairath 19 Nov 2019
  
  in Public
  
  bilateral hip dislocation
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0008780
  
  ClinGen hpoLookup monarchLookup HP:0008780 hpoLookup:individual individual:1 gene:TNNT3
14. mjairath 19 Nov 2019
  
  in Public
  
  finger contractures
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0005879
  
  ClinGen hpoLookup monarchLookup HP:0005879 hpoLookup:individual individual:1 gene:TNNT3
15. mjairath 19 Nov 2019
  
  in Public
  
  knee contractures
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0006380
  
  ClinGen hpoLookup monarchLookup HP:0006380 hpoLookup:individual individual:1 gene:TNNT3
16. mjairath 19 Nov 2019
  
  in Public
  
  high arched palate
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000218
  
  ClinGen hpoLookup monarchLookup HP:0000218 hpoLookup:individual individual:1 gene:TNNT3
17. mjairath 19 Nov 2019
  
  in Public
  
  hypotonia
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001252
  
  ClinGen hpoLookup monarchLookup HP:0001252 hpoLookup:individual individual:1 gene:TNNT3
18. mjairath 19 Nov 2019
  
  in Public
  
  limb muscles
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0009028
  
  ClinGen hpoLookup monarchLookup HP:0009028 hpoLookup:individual individual:1 gene:TNNT3
19. mjairath 19 Nov 2019
  
  in Public
  
  weakness of facial
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0030319
  
  ClinGen hpoLookup monarchLookup HP:0030319 hpoLookup:individual individual:1 gene:TNNT3
20. mjairath 19 Nov 2019
  
  in Public
  
  rocker-bottom
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001838
  
  ClinGen hpoLookup monarchLookup HP:0001838 hpoLookup:individual individual:1 gene:TNNT3
21. mjairath 19 Nov 2019
  
  in Public
  
  bilateral talipes
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001776
  
  ClinGen hpoLookup monarchLookup HP:0001776 hpoLookup:individual individual:1 gene:TNNT3
22. mjairath 19 Nov 2019
  
  in Public
  
  overlapping digits
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0010557
  
  ClinGen hpoLookup monarchLookup HP:0010557 hpoLookup:individual individual:1 gene:TNNT3
23. mjairath 19 Nov 2019
  
  in Public
  
  overlapping digits
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001845
  
  ClinGen hpoLookup monarchLookup HP:0001845 hpoLookup:individual individual:1 gene:TNNT3
24. mjairath 19 Nov 2019
  
  in Public
  
  polyhydramnios
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001561
  
  ClinGen hpoLookup monarchLookup HP:0001561 hpoLookup:individual individual:1 gene:TNNT3
25. mjairath 19 Nov 2019
  
  in Public
  
  TNNT3
  
  ClinGen gene:TNNT3 pmid:29266598
Visit annotations in context

Tags

HP:0001845

HP:0010557

HP:0002206

HP:0006380

HP:0000218

HP:0001561

HP:0005879

HP:0009028

monarchLookup

HP:0040288

HP:0003554

individual:1

HP:0001776

HP:0002943

HP:0100295

hpoLookup

HP:0030319

hpoLookup:individual

HP%3A0100293

HP:0001252

pmid:29266598

HP:0001283

HP%3A0004887

HP:0003798

gene:TNNT3

HP:0008780

HP:0002747

ClinGen

HP:0001838

Annotators

mjairath

URL

ncbi.nlm.nih.gov/pmc/articles/PMC5805634/
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients

1
1. megan_mayers 18 Nov 2019
  
  in Public
  
  MYH7
  
  ClinGen gene:MYH7 pmid:27387980
Visit annotations in context

Tags

pmid:27387980

ClinGen

gene:MYH7

Annotators

megan_mayers

URL

ncbi.nlm.nih.gov/pmc/articles/PMC4936326/
Oct 2019
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3007158/

5
1. may_flowers 07 Oct 2019
  
  in Public
  
  aminoaciduria
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003355
  
  ClinGen hpoLookup monarchLookup HP:0003355 hpoLookup:individual individual:1 gene:SLC1A1
2. may_flowers 07 Oct 2019
  
  in Public
  
  aspartate level
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0010899
  
  ClinGen hpoLookup monarchLookup HP:0010899 hpoLookup:individual individual:1 gene:SLC1A1
3. may_flowers 07 Oct 2019
  
  in Public
  
  obsessive-compulsive trait
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0008770
  
  ClinGen hpoLookup monarchLookup HP:0008770 hpoLookup:individual individual:1 gene:SLC1A1
4. may_flowers 07 Oct 2019
  
  in Public
  
  kidney stones
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000787
  
  ClinGen hpoLookup monarchLookup HP:0000787 hpoLookup:individual individual:1 gene:SLC1A1
5. may_flowers 07 Oct 2019
  
  in Public
  
  SLC1A1
  
  ClinGen gene:SLC1A1 pmid:21123949
Visit annotations in context

Tags

individual:1

gene:SLC1A1

hpoLookup

pmid:21123949

hpoLookup:individual

HP:0003355

HP:0000787

monarchLookup

HP:0008770

HP:0010899

ClinGen

Annotators

may_flowers

URL

ncbi.nlm.nih.gov/pmc/articles/PMC3007158/
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 01 Oct 2019
  
  in Public
  
  variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/559601/
  
  ClinGen variantLookup variant:559601 variantLookup:individual individual:1 gene:FBXO11
2. cthaxton 01 Oct 2019
  
  in Public
  
  FBXO11
  
  ClinGen gene:FBXO11 pmid:30057029
3. 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
4. cthaxton 01 Oct 2019
  
  in Public
  
  developmental delay
  
  ClinGen gene:developmental delay pmid:30057029
Visit annotations in context

Tags

individual:1

pmid:30057029

hpoLookup

gene:developmental delay

variant:559601

hpoLookup:group

HP:0001263

gene:FBXO11

group:1

monarchLookup

variantLookup

variantLookup:individual

ClinGen

Annotators

cthaxton

URL

ncbi.nlm.nih.gov/pmc/articles/PMC6080769/
reg.clinicalgenome.org reg.clinicalgenome.org

https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA346813374

1
1. cthaxton 01 Oct 2019
  
  in Public
  
  allele id lookup result: https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA346813374
  
  ClinGen alleleLookup allele:CA346813374 alleleLookup:individual individual:1 gene:FBXO11
Visit annotations in context

Tags

alleleLookup:individual

individual:1

allele:CA346813374

gene:FBXO11

alleleLookup

ClinGen

Annotators

cthaxton

URL

reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid
reg.clinicalgenome.org reg.clinicalgenome.org

https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA346764646

1
1. cthaxton 01 Oct 2019
  
  in Public
  
  allele id lookup result: https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA346764646
  
  ClinGen alleleLookup allele:CA346764646 alleleLookup:individual individual:2 gene:developmental delay
Visit annotations in context

Tags

alleleLookup:individual

alleleLookup

gene:developmental delay

individual:2

allele:CA346764646

ClinGen

Annotators

cthaxton

URL

reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid
onlinelibrary.wiley.com onlinelibrary.wiley.com

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

2
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
2. cthaxton 01 Oct 2019
  
  in Public
  
  PLAA
  
  ClinGen gene:PLAA pmid:undefined
Visit annotations in context

Tags

hpoLookup

HP:0000252

gene:PLAA

hpoLookup:group

pmid:undefined

group:1

monarchLookup

ClinGen

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

15
1. cthaxton 27 Sep 2019
  
  in Public
  
  allele id lookup result
  
  ClinGen alleleLookup allele:CA346813374 alleleLookup:individual individual:2 gene:FBXO11
2. ppascual 16 Sep 2019
  
  in Public
  
  variant id lookup result
  
  ClinGen variantLookup variant:495703 variantLookup:family family:1 gene:FBXO11
3. ppascual 16 Sep 2019
  
  in Public
  
  variant id lookup result
  
  ClinGen variantLookup variant:495703 variantLookup:family family:1 gene:FBXO11
4. cthaxton 11 Sep 2019
  
  in Public
  
  Seizures
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001250
  
  ClinGen hpoLookup monarchLookup HP:0001250 hpoLookup:individual individual:2 gene:FBXO11
5. cthaxton 11 Sep 2019
  
  in Public
  
  22 mo
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0031936
  
  ClinGen hpoLookup monarchLookup HP:0031936 hpoLookup:individual individual:2 gene:FBXO11
6. cthaxton 11 Sep 2019
  
  in Public
  
  variant id lookup result
  
  ClinGen variantLookup variant:559600 variantLookup:individual individual:1 gene:FBXO11
7. cthaxton 11 Sep 2019
  
  in Public
  
  constipation
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002019
  
  ClinGen hpoLookup monarchLookup HP:0002019 hpoLookup:individual individual:1 gene:FBXO11
8. cthaxton 11 Sep 2019
  
  in Public
  
  hairy elbows
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0004780
  
  ClinGen hpoLookup monarchLookup HP:0004780 hpoLookup:individual individual:1 gene:FBXO11
9. cthaxton 11 Sep 2019
  
  in Public
  
  strabismus
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000486
  
  ClinGen hpoLookup monarchLookup HP:0000486 hpoLookup:individual individual:1 gene:FBXO11
10. cthaxton 11 Sep 2019
  
  in Public
  
  joint laxity
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001388
  
  ClinGen hpoLookup monarchLookup HP:0001388 hpoLookup:individual individual:1 gene:FBXO11
11. cthaxton 11 Sep 2019
  
  in Public
  
  fetal fingerpads
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001212
  
  ClinGen hpoLookup monarchLookup HP:0001212 hpoLookup:individual individual:1 gene:FBXO11
12. cthaxton 11 Sep 2019
  
  in Public
  
  mild hypertelorism
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000316
  
  ClinGen hpoLookup monarchLookup HP:0000316 hpoLookup:individual individual:1 gene:FBXO11
13. cthaxton 11 Sep 2019
  
  in Public
  
  long eyelashes
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000527
  
  ClinGen hpoLookup monarchLookup HP:0000527 hpoLookup:individual individual:1 gene:FBXO11
14. cthaxton 11 Sep 2019
  
  in Public
  
  mild exophthalmos
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP%3A0000520
  
  ClinGen hpoLookup monarchLookup HP%3A0000520 hpoLookup:individual individual:1 gene:FBXO11
15. cthaxton 11 Sep 2019
  
  in Public
  
  broad forehead
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000337
  
  ClinGen hpoLookup monarchLookup HP:0000337 hpoLookup:individual individual:1 gene:FBXO11
Visit annotations in context

Tags

family:1

alleleLookup

HP:0004780

HP:0000486

HP%3A0000520

variantLookup:family

HP:0000527

allele:CA346813374

gene:FBXO11

monarchLookup

variantLookup:individual

individual:2

alleleLookup:individual

individual:1

HP:0000316

HP:0001250

hpoLookup

HP:0002019

hpoLookup:individual

HP:0031936

HP:0001388

HP:0001212

variantLookup

variant:559600

variant:495703

ClinGen

HP:0000337

Annotators

cthaxton

ppascual

URL

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