Hypothesis

669 Matching Annotations

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

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

17
1. megan_mayers 15 Jan 2020
  
  in Public
  
  dolichocephaly
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000268
  
  ClinGen hpoLookup monarchLookup HP:0000268 hpoLookup:individual individual:1 gene:MN1
2. megan_mayers 15 Jan 2020
  
  in Public
  
  Speech impairment
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002167
  
  ClinGen hpoLookup monarchLookup HP:0002167 hpoLookup:individual individual:1 gene:MN1
3. megan_mayers 15 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:MN1
4. megan_mayers 15 Jan 2020
  
  in Public
  
  allele id lookup result: https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA915940579
  
  ClinGen alleleLookup allele:CA915940579 alleleLookup:individual individual:3 gene:MN1
5. megan_mayers 15 Jan 2020
  
  in Public
  
  allele id lookup result: https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA411033555
  
  ClinGen alleleLookup allele:CA411033555 alleleLookup:individual individual:2 gene:MN1
6. megan_mayers 15 Jan 2020
  
  in Public
  
  variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/72912/
  
  ClinGen variantLookup variant:72912 variantLookup:individual individual:1 gene:MN1
7. 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
8. 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
9. 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
10. 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
11. 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
12. 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
13. 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
14. 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
15. 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
16. 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
17. megan_mayers 15 Jan 2020
  
  in Public
  
  MN1
  
  ClinGen gene:MN1 pmid:undefined
Visit annotations in context

Tags

HP:0001263

individual:3

hpoLookup

hpoLookup:group

allele:CA915940579

HP:0002167

HP:0003196

gene:MN1

individual:2

group:1

HP:0000268

pmid:undefined

individual:1

HP:0000574

HP:0000463

HP:0011344

allele:CA411033555

alleleLookup

HP:0002591

variantLookup:individual

variantLookup

HP:0012368

ClinGen

HP:0000316

variant:72912

monarchLookup

HP:0000369

alleleLookup:individual

hpoLookup:individual

Annotators

megan_mayers

URL

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

https://www.sciencedirect.com/science/article/pii/S000292971930432X?via%3Dihub

1
1. megan_mayers 15 Jan 2020
  
  in Public
  
  MN1
  
  ClinGen gene:MN1 pmid:undefined
Visit annotations in context

Tags

ClinGen

gene:MN1

pmid:undefined

Annotators

megan_mayers

URL

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

https://www.sciencedirect.com/science/article/pii/S0002929719302411

1
1. megan_mayers 15 Jan 2020
  
  in Public
  
  POLR2A
  
  ClinGen gene:POLR2A pmid:undefined
Visit annotations in context

Tags

ClinGen

gene:POLR2A

pmid:undefined

Annotators

megan_mayers

URL

sciencedirect.com/science/article/pii/S0002929719302411
www.sciencedirect.com www.sciencedirect.com

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

41
1. megan_mayers 15 Jan 2020
  
  in Public
  
  NKAP
  
  ClinGen gene:NKAP pmid:undefined
2. megan_mayers 14 Jan 2020
  
  in Public
  
  allele id lookup result: https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA414193321
  
  ClinGen alleleLookup allele:CA414193321 alleleLookup:individual individual:1 gene:NKAP
3. megan_mayers 14 Jan 2020
  
  in Public
  
  Arachnodactyly
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001166
  
  ClinGen hpoLookup monarchLookup HP:0001166 hpoLookup:individual individual:1 gene:NKAP
4. megan_mayers 14 Jan 2020
  
  in Public
  
  Camptodactyly
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0012385
  
  ClinGen hpoLookup monarchLookup HP:0012385 hpoLookup:individual individual:1 gene:NKAP
5. megan_mayers 14 Jan 2020
  
  in Public
  
  Joint laxity
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001388
  
  ClinGen hpoLookup monarchLookup HP:0001388 hpoLookup:individual individual:1 gene:NKAP
6. megan_mayers 14 Jan 2020
  
  in Public
  
  Slender limbs
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001533
  
  ClinGen hpoLookup monarchLookup HP:0001533 hpoLookup:individual individual:1 gene:NKAP
7. megan_mayers 14 Jan 2020
  
  in Public
  
  Pectus
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000768
  
  ClinGen hpoLookup monarchLookup HP:0000768 hpoLookup:individual individual:1 gene:NKAP
8. megan_mayers 14 Jan 2020
  
  in Public
  
  Pectus
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000767
  
  ClinGen hpoLookup monarchLookup HP:0000767 hpoLookup:individual individual:1 gene:NKAP
9. megan_mayers 14 Jan 2020
  
  in Public
  
  Scoliosis
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002650
  
  ClinGen hpoLookup monarchLookup HP:0002650 hpoLookup:individual individual:1 gene:NKAP
10. megan_mayers 14 Jan 2020
  
  in Public
  
  Tall stature
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000098
  
  ClinGen hpoLookup monarchLookup HP:0000098 hpoLookup:individual individual:1 gene:NKAP
11. 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:individual individual:1 gene:NKAP
12. megan_mayers 14 Jan 2020
  
  in Public
  
  large ears
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000400
  
  ClinGen hpoLookup monarchLookup HP:0000400 hpoLookup:individual individual:1 gene:NKAP
13. 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:individual individual:1 gene:NKAP
14. megan_mayers 14 Jan 2020
  
  in Public
  
  Short philtrum
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000322
  
  ClinGen hpoLookup monarchLookup HP:0000322 hpoLookup:individual individual:1 gene:NKAP
15. megan_mayers 14 Jan 2020
  
  in Public
  
  Long face
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000276
  
  ClinGen hpoLookup monarchLookup HP:0000276 hpoLookup:individual individual:1 gene:NKAP
16. megan_mayers 14 Jan 2020
  
  in Public
  
  Hypotonia
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001290
  
  ClinGen hpoLookup monarchLookup HP:0001290 hpoLookup:individual individual:1 gene:NKAP
17. megan_mayers 14 Jan 2020
  
  in Public
  
  intellectual disability
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001249
  
  ClinGen hpoLookup monarchLookup HP:0001249 hpoLookup:individual individual:1 gene:NKAP
18. megan_mayers 14 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:NKAP
19. 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
20. 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
21. 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
22. 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
23. 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
24. 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
25. 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
26. 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
27. 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
28. 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
29. 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
30. 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
31. 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
32. 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
33. 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
34. 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
35. 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
36. 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
37. 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
38. 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
39. 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
40. 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
41. 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

hpoLookup

HP:0000322

HP:0000768

pmid:undefined

HP:0004942

HP:0001290

gene:NKAP

HP:0000400

HP:0007018

monarchLookup

HP:0001653

HP:0001762

alleleLookup:individual

hpoLookup:individual

HP:0001263

HP:0001643

HP:0001631

HP:0000718

HP:0012743

HP:0000276

HP:0001629

group:1

individual:1

HP:0000028

allele:CA414193321

HP:0001166

HP:0012385

HP:0000194

HP:0000767

alleleLookup

HP:0000098

ClinGen

HP:0011800

HP:0002650

HP:0001533

HP:0001249

HP:0001388

hpoLookup:group

Annotators

megan_mayers

URL

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

https://www.sciencedirect.com/science/article/pii/S0960896613009826

1
1. may_flowers 15 Jan 2020
  
  in Public
  
  axial muscle weakness
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003327
  
  ClinGen hpoLookup monarchLookup HP:0003327 hpoLookup:individual individual:2 gene:SGCG
Visit annotations in context

Tags

ClinGen

HP:0003327

hpoLookup

gene:SGCG

individual:2

monarchLookup

hpoLookup:individual

Annotators

may_flowers

URL

sciencedirect.com/science/article/pii/S0960896613009826
www.sciencedirect.com www.sciencedirect.com

https://www.sciencedirect.com/science/article/pii/S0960896613009826?via%3Dihub

1
1. may_flowers 15 Jan 2020
  
  in Public
  
  Gowers’ sign
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003391
  
  ClinGen hpoLookup monarchLookup HP:0003391 hpoLookup:individual individual:1 gene:SGCG
Visit annotations in context

Tags

ClinGen

hpoLookup

gene:SGCG

HP:0003391

monarchLookup

individual:1

hpoLookup:individual

Annotators

may_flowers

URL

sciencedirect.com/science/article/pii/S0960896613009826
www.sciencedirect.com www.sciencedirect.com

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

1
1. megan_mayers 14 Jan 2020
  
  in Public
  
  NKAP
  
  ClinGen gene:NKAP pmid:undefined
Visit annotations in context

Tags

ClinGen

gene:NKAP

pmid:undefined

Annotators

megan_mayers

URL

sciencedirect.com/science/article/pii/S0002929719303489
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

An AAV-SGCG Dose-Response Study in a γ-Sarcoglycanopathy Mouse Model in the Context of Mechanical Stress

3
1. may_flowers 08 Jan 2020
  
  in Public
  
  Blood
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0410211
  
  ClinGen hpoLookup monarchLookup HP:0410211 hpoLookup:individual individual:1 gene:SGCG
2. may_flowers 08 Jan 2020
  
  in Public
  
  fiber degeneration
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0100295
  
  ClinGen hpoLookup monarchLookup HP:0100295 hpoLookup:individual individual:1 gene:SGCG
3. may_flowers 08 Jan 2020
  
  in Public
  
  SGCG
  
  ClinGen gene:SGCG pmid:31194043
Visit annotations in context

Tags

hpoLookup

gene:SGCG

HP:0100295

ClinGen

HP:0410211

monarchLookup

pmid:31194043

individual:1

hpoLookup:individual

Annotators

may_flowers

URL

ncbi.nlm.nih.gov/pmc/articles/PMC6545357/
reg.clinicalgenome.org reg.clinicalgenome.org

http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA398917343

1
1. may_flowers 06 Jan 2020
  
  in Public
  
  allele id lookup result: https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA915940549
  
  ClinGen alleleLookup allele:CA915940549 alleleLookup:individual individual:7 gene:TAOK1
Visit annotations in context

Tags

ClinGen

allele:CA915940549

gene:TAOK1

alleleLookup

individual:7

alleleLookup:individual

Annotators

may_flowers

URL

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

http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA399189115

1
1. may_flowers 06 Jan 2020
  
  in Public
  
  allele id lookup result: http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA398917343
  
  ClinGen alleleLookup allele:CA398917343 alleleLookup:individual individual:8 gene:TAOK1
Visit annotations in context

Tags

ClinGen

alleleLookup:individual

gene:TAOK1

alleleLookup

individual:8

allele:CA398917343

Annotators

may_flowers

URL

reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid
www.sciencedirect.com www.sciencedirect.com

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

74
1. may_flowers 06 Jan 2020
  
  in Public
  
  allele id lookup result: http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA399189115
  
  ClinGen alleleLookup allele:CA399189115 alleleLookup:individual individual:6 gene:TAOK1
2. may_flowers 06 Jan 2020
  
  in Public
  
  allele id lookup result: http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA399196709
  
  ClinGen alleleLookup allele:CA399196709 alleleLookup:individual individual:5 gene:TAOK1
3. may_flowers 06 Jan 2020
  
  in Public
  
  allele id lookup result: http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA398915284
  
  ClinGen alleleLookup allele:CA398915284 alleleLookup:individual individual:3 gene:TAOK1
4. may_flowers 06 Jan 2020
  
  in Public
  
  allele id lookup result: http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA399193661
  
  ClinGen alleleLookup allele:CA399193661 alleleLookup:individual individual:2 gene:TAOK1
5. may_flowers 06 Jan 2020
  
  in Public
  
  allele id lookup result: http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA399185143
  
  ClinGen alleleLookup allele:CA399185143 alleleLookup:individual individual:1 gene:TAOK1
6. may_flowers 05 Jan 2020
  
  in Public
  
  down-slanting eyelid
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0200006
  
  ClinGen hpoLookup monarchLookup HP:0200006 hpoLookup:individual individual:6 gene:TAOK1
7. may_flowers 05 Jan 2020
  
  in Public
  
  short proximal extremities
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0009815
  
  ClinGen hpoLookup monarchLookup HP:0009815 hpoLookup:individual individual:6 gene:TAOK1
8. may_flowers 05 Jan 2020
  
  in Public
  
  3
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001947
  
  ClinGen hpoLookup monarchLookup HP:0001947 hpoLookup:individual individual:3 gene:TAOK1
9. may_flowers 05 Jan 2020
  
  in Public
  
  3
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001942
  
  ClinGen hpoLookup monarchLookup HP:0001942 hpoLookup:individual individual:3 gene:TAOK1
10. may_flowers 05 Jan 2020
  
  in Public
  
  8
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001763
  
  ClinGen hpoLookup monarchLookup HP:0001763 hpoLookup:individual individual:8 gene:TAOK1
11. may_flowers 05 Jan 2020
  
  in Public
  
  5
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001763
  
  ClinGen hpoLookup monarchLookup HP:0001763 hpoLookup:individual individual:5 gene:TAOK1
12. may_flowers 05 Jan 2020
  
  in Public
  
  8
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001382
  
  ClinGen hpoLookup monarchLookup HP:0001382 hpoLookup:individual individual:8 gene:TAOK1
13. may_flowers 05 Jan 2020
  
  in Public
  
  5
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001382
  
  ClinGen hpoLookup monarchLookup HP:0001382 hpoLookup:individual individual:5 gene:TAOK1
14. may_flowers 05 Jan 2020
  
  in Public
  
  4
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002415
  
  ClinGen hpoLookup monarchLookup HP:0002415 hpoLookup:individual individual:4 gene:TAOK1
15. may_flowers 05 Jan 2020
  
  in Public
  
  6
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000175
  
  ClinGen hpoLookup monarchLookup HP:0000175 hpoLookup:individual individual:6 gene:TAOK1
16. may_flowers 05 Jan 2020
  
  in Public
  
  8
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002705
  
  ClinGen hpoLookup monarchLookup HP:0002705 hpoLookup:individual individual:8 gene:TAOK1
17. may_flowers 05 Jan 2020
  
  in Public
  
  5
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002705
  
  ClinGen hpoLookup monarchLookup HP:0002705 hpoLookup:individual individual:5 gene:TAOK1
18. may_flowers 05 Jan 2020
  
  in Public
  
  3
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002705
  
  ClinGen hpoLookup monarchLookup HP:0002705 hpoLookup:individual individual:3 gene:TAOK1
19. may_flowers 05 Jan 2020
  
  in Public
  
  6
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000369
  
  ClinGen hpoLookup monarchLookup HP:0000369 hpoLookup:individual individual:6 gene:TAOK1
20. may_flowers 05 Jan 2020
  
  in Public
  
  5
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000369
  
  ClinGen hpoLookup monarchLookup HP:0000369 hpoLookup:individual individual:5 gene:TAOK1
21. may_flowers 05 Jan 2020
  
  in Public
  
  3
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000369
  
  ClinGen hpoLookup monarchLookup HP:0000369 hpoLookup:individual individual:3 gene:TAOK1
22. may_flowers 05 Jan 2020
  
  in Public
  
  3
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000325
  
  ClinGen hpoLookup monarchLookup HP:0000325 hpoLookup:individual individual:3 gene:TAOK1
23. may_flowers 05 Jan 2020
  
  in Public
  
  3
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000322
  
  ClinGen hpoLookup monarchLookup HP:0000322 hpoLookup:individual individual:3 gene:TAOK1
24. may_flowers 05 Jan 2020
  
  in Public
  
  2
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0005280
  
  ClinGen hpoLookup monarchLookup HP:0005280 hpoLookup:individual individual:2 gene:TAOK1
25. may_flowers 05 Jan 2020
  
  in Public
  
  6
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000316
  
  ClinGen hpoLookup monarchLookup HP:0000316 hpoLookup:individual individual:6 gene:TAOK1
26. may_flowers 05 Jan 2020
  
  in Public
  
  8
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000348
  
  ClinGen hpoLookup monarchLookup HP:0000348 hpoLookup:individual individual:8 gene:TAOK1
27. may_flowers 05 Jan 2020
  
  in Public
  
  6
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000348
  
  ClinGen hpoLookup monarchLookup HP:0000348 hpoLookup:individual individual:6 gene:TAOK1
28. may_flowers 05 Jan 2020
  
  in Public
  
  5
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000348
  
  ClinGen hpoLookup monarchLookup HP:0000348 hpoLookup:individual individual:5 gene:TAOK1
29. may_flowers 05 Jan 2020
  
  in Public
  
  3
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000348
  
  ClinGen hpoLookup monarchLookup HP:0000348 hpoLookup:individual individual:3 gene:TAOK1
30. may_flowers 05 Jan 2020
  
  in Public
  
  6
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002003
  
  ClinGen hpoLookup monarchLookup HP:0002003 hpoLookup:individual individual:6 gene:TAOK1
31. may_flowers 05 Jan 2020
  
  in Public
  
  2
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002003
  
  ClinGen hpoLookup monarchLookup HP:0002003 hpoLookup:individual individual:2 gene:TAOK1
32. may_flowers 05 Jan 2020
  
  in Public
  
  macrocephaly
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000256
  
  ClinGen hpoLookup monarchLookup HP:0000256 hpoLookup:individual individual:6 gene:TAOK1
33. may_flowers 05 Jan 2020
  
  in Public
  
  macrocephaly
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000256
  
  ClinGen hpoLookup monarchLookup HP:0000256 hpoLookup:individual individual:3 gene:TAOK1
34. may_flowers 05 Jan 2020
  
  in Public
  
  macrocephaly
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000256
  
  ClinGen hpoLookup monarchLookup HP:0000256 hpoLookup:individual individual:2 gene:TAOK1
35. may_flowers 05 Jan 2020
  
  in Public
  
  7
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000717
  
  ClinGen hpoLookup monarchLookup HP:0000717 hpoLookup:individual individual:7 gene:TAOK1
36. 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
37. 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
38. 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
39. 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
40. 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
41. 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
42. 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
43. 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
44. 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
45. 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
46. 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
47. 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
48. 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
49. 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
50. 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
51. 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
52. 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
53. 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
54. 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
55. 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
56. 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
57. 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
58. 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
59. 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
60. 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
61. 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
62. 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
63. 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
64. 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
65. 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
66. 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
67. 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
68. 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
69. 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
70. 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
71. 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
72. 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
73. 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
74. may_flowers 05 Jan 2020
  
  in Public
  
  TAOK1
  
  ClinGen gene:TAOK1 pmid:undefined
Visit annotations in context

Tags

HP:0000256

allele:CA399185143

hpoLookup

individual:8

HP:0000322

individual:6

allele:CA399189115

individual:2

HP:0001252

pmid:undefined

HP:0200006

HP:0000540

HP:0002003

HP:0000316

allele:CA398915284

HP:0007018

monarchLookup

HP:0000736

HP:0000369

alleleLookup:individual

hpoLookup:individual

HP:0000639

individual:3

HP:0001263

HP:0002415

HP:0001942

HP:0000407

allele:CA399193661

HP:0001265

HP:0000505

HP:0000325

HP:0001763

individual:1

HP:0009815

allele:CA399196709

HP:0001947

alleleLookup

HP:0001382

HP:0000750

HP:0000348

ClinGen

gene:TAOK1

individual:4

HP:0005280

HP:0000717

HP:0001250

individual:5

HP:0002705

HP:0001270

individual:7

HP:0001249

HP:0000175

Annotators

may_flowers

URL

sciencedirect.com/science/article/pii/S0002929719301910
reg.clinicalgenome.org reg.clinicalgenome.org

http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA398915284

1
1. may_flowers 06 Jan 2020
  
  in Public
  
  allele id lookup result: http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA399193709
  
  ClinGen alleleLookup allele:CA399193709 alleleLookup:individual individual:4 gene:TAOK1
Visit annotations in context

Tags

ClinGen

gene:TAOK1

individual:4

allele:CA399193709

alleleLookup

alleleLookup:individual

Annotators

may_flowers

URL

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

individual:3

allele:CA8805224

hpoLookup

variant:692266

HP:0012207

gene:DNAH17

hpoLookup:individual

variant:692268

individual:2

group:1

pmid:undefined

individual:1

HP:0032559

alleleLookup

variantLookup:individual

variantLookup

variant:692269

ClinGen

HP:0003251

individual:4

HP:0032560

monarchLookup

HP:0032558

alleleLookup:individual

hpoLookup:group

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

variant:692266

variantLookup:individual

variantLookup

ClinGen

gene:DNAH17

individual:1

individual:3

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

gene:POLR2A

hpoLookup

ClinGen

individual:6

monarchLookup

individual:1

pmid:undefined

HP:0001290

hpoLookup:individual

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

hpoLookup

HP:0001744

HP:0031956

variant:692228

individual:2

HP:0003573

HP:0031964

HP:0003235

pmid:undefined

HP:0001943

HP:0003170

HP:0003517

HP:0001395

HP:0008417

HP:0002240

variantLookup:individual

variant:547947

variant:547946

HP:0010574

HP:0004322

HP:0008151

HP:0001987

monarchLookup

HP:0003256

HP:0004582

HP:0001762

hpoLookup:individual

HP:0006268

HP:0006579

variant:692227

HP:0004719

group:1

individual:1

HP:0000926

HP:0002093

variantLookup

ClinGen

HP:0001397

HP:0006554

gene:RINT1

variant:599396

HP:0001659

individual:3

hpoLookup:group

Annotators

may_flowers

URL

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

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

1
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
Visit annotations in context

Tags

ClinGen

variant:634925

family:2

gene:NUP214

variantLookup

variantLookup:family

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

family:2

variant:545116

variantLookup

variantLookup:family

variant:634924

ClinGen

family:1

gene:NUP214

Annotators

may_flowers

URL

ncbi.nlm.nih.gov/clinvar/variation/545116/