Hypothesis

265 Matching Annotations

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

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

12
1. 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
2. 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
3. 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
4. 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
5. 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
6. 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
7. 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
8. 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
9. 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
10. 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
11. 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
12. 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
Visit annotations in context

Tags

hpoLookup:individual

gene:NUP214

HP:0002300

HP:0000565

HP:0002353

hpoLookup

HP:0003470

HP:0008936

HP:0001251

HP:0100703

HP:0001257

HP:0025330

monarchLookup

HP:0002069

HP:0002181

ClinGen

HP:0001250

individual:1

individual:2

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/pmc/articles/PMC6376703/

2
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
Visit annotations in context

Tags

hpoLookup:individual

gene:SGCA

hpoLookup

HP:0003323

monarchLookup

ClinGen

individual:1

HP%3A0003202

Annotators

may_flowers

URL

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

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

3
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:individual individual:1 gene:DDX6
Visit annotations in context

Tags

HP:0001249

hpoLookup:individual

hpoLookup

gene:DDX6

HP:0000252

monarchLookup

ClinGen

individual:1

HP:0000750

Annotators

cthaxton

URL

sciencedirect.com/science/article/pii/S0002929719302733
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

24
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
Visit annotations in context

Tags

HP:0001776

HP:0001845

hpoLookup:individual

HP:0030319

hpoLookup

HP:0002943

HP:0002747

HP:0001283

HP:0001838

HP:0000218

HP:0040288

HP:0001252

HP:0002206

HP:0003798

HP:0008780

HP:0006380

HP:0100295

HP:0003554

HP:0001561

HP%3A0004887

monarchLookup

HP%3A0100293

HP:0010557

ClinGen

HP:0005879

individual:1

HP:0009028

gene:TNNT3

Annotators

mjairath

URL

ncbi.nlm.nih.gov/pmc/articles/PMC5805634/
Oct 2019
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

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

4
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
Visit annotations in context

Tags

HP:0008770

hpoLookup:individual

HP:0000787

HP:0010899

hpoLookup

monarchLookup

HP:0003355

gene:SLC1A1

ClinGen

individual:1

Annotators

may_flowers

URL

ncbi.nlm.nih.gov/pmc/articles/PMC3007158/
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

20
1. 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
2. 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
3. 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
4. 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
5. 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
6. 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
7. 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
8. 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
9. 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
10. 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
11. 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
12. cthaxton 11 Sep 2019
  
  in Public
  
  triangular face
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000325
  
  ClinGen hpoLookup monarchLookup HP:0000325 hpoLookup:individual individual:1 gene:FBXO11
13. cthaxton 11 Sep 2019
  
  in Public
  
  aggressivity
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000718
  
  ClinGen hpoLookup monarchLookup HP:0000718 hpoLookup:individual individual:1 gene:FBXO11
14. cthaxton 11 Sep 2019
  
  in Public
  
  no eye contact,
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000817
  
  ClinGen hpoLookup monarchLookup HP:0000817 hpoLookup:individual individual:1 gene:FBXO11
15. cthaxton 11 Sep 2019
  
  in Public
  
  social interaction
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0012760
  
  ClinGen hpoLookup monarchLookup HP:0012760 hpoLookup:individual individual:1 gene:FBXO11
16. cthaxton 11 Sep 2019
  
  in Public
  
  autistic
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000729
  
  ClinGen hpoLookup monarchLookup HP:0000729 hpoLookup:individual individual:1 gene:FBXO11
17. cthaxton 11 Sep 2019
  
  in Public
  
  yes
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001290
  
  ClinGen hpoLookup monarchLookup HP:0001290 hpoLookup:individual individual:1 gene:FBXO11
18. cthaxton 11 Sep 2019
  
  in Public
  
  severe
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP%3A0011344
  
  ClinGen hpoLookup monarchLookup HP%3A0011344 hpoLookup:individual individual:1 gene:FBXO11
19. cthaxton 11 Sep 2019
  
  in Public
  
  no speech
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001344
  
  ClinGen hpoLookup monarchLookup HP:0001344 hpoLookup:individual individual:1 gene:FBXO11
20. cthaxton 11 Sep 2019
  
  in Public
  
  122 cm (−2.7)
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP%3A0000002
  
  ClinGen hpoLookup monarchLookup HP%3A0000002 hpoLookup:individual individual:1 gene:FBXO11
Visit annotations in context

Tags

HP:0001388

hpoLookup:individual

HP:0000817

HP:0000729

HP:0001290

hpoLookup

gene:FBXO11

HP:0001212

HP:0000316

HP:0000486

HP:0031936

HP:0000337

HP:0000718

HP:0002019

HP:0012760

HP%3A0000002

monarchLookup

HP%3A0011344

HP:0001344

HP:0001250

HP:0000527

ClinGen

HP:0004780

individual:1

individual:2

HP:0000325

HP%3A0000520

Annotators

cthaxton

URL

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