Hypothesis

45 Matching Annotations

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

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

44
1. megan_mayers 17 Jan 2020
  
  in Public
  
  Feeding difficulty
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0011968
  
  ClinGen hpoLookup monarchLookup HP:0011968 hpoLookup:individual individual:2 gene:MN1
2. megan_mayers 17 Jan 2020
  
  in Public
  
  Hypotonia
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001290
  
  ClinGen hpoLookup monarchLookup HP:0001290 hpoLookup:individual individual:2 gene:MN1
3. megan_mayers 17 Jan 2020
  
  in Public
  
  Anteverted nares
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000463
  
  ClinGen hpoLookup monarchLookup HP:0000463 hpoLookup:individual individual:2 gene:MN1
4. megan_mayers 17 Jan 2020
  
  in Public
  
  Short nose
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003196
  
  ClinGen hpoLookup monarchLookup HP:0003196 hpoLookup:individual individual:2 gene:MN1
5. megan_mayers 17 Jan 2020
  
  in Public
  
  Depressed nasal ridge
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000457
  
  ClinGen hpoLookup monarchLookup HP:0000457 hpoLookup:individual individual:2 gene:MN1
6. megan_mayers 17 Jan 2020
  
  in Public
  
  Low-set ears
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000369
  
  ClinGen hpoLookup monarchLookup HP:0000369 hpoLookup:individual individual:2 gene:MN1
7. megan_mayers 17 Jan 2020
  
  in Public
  
  Widely spaced eyes
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000316
  
  ClinGen hpoLookup monarchLookup HP:0000316 hpoLookup:individual individual:2 gene:MN1
8. megan_mayers 17 Jan 2020
  
  in Public
  
  Thick eyebrow
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000574
  
  ClinGen hpoLookup monarchLookup HP:0000574 hpoLookup:individual individual:2 gene:MN1
9. megan_mayers 17 Jan 2020
  
  in Public
  
  Flat face
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0012368
  
  ClinGen hpoLookup monarchLookup HP:0012368 hpoLookup:individual individual:2 gene:MN1
10. megan_mayers 17 Jan 2020
  
  in Public
  
  Prominent forehead
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0011220
  
  ClinGen hpoLookup monarchLookup HP:0011220 hpoLookup:individual individual:2 gene:MN1
11. megan_mayers 17 Jan 2020
  
  in Public
  
  dolichocephaly
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000268
  
  ClinGen hpoLookup monarchLookup HP:0000268 hpoLookup:individual individual:2 gene:MN1
12. megan_mayers 17 Jan 2020
  
  in Public
  
  Speech impairment
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002167
  
  ClinGen hpoLookup monarchLookup HP:0002167 hpoLookup:individual individual:2 gene:MN1
13. megan_mayers 17 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:MN1
14. megan_mayers 15 Jan 2020
  
  in Public
  
  Hyperphagia
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002591
  
  ClinGen hpoLookup monarchLookup HP:0002591 hpoLookup:individual individual:1 gene:MN1
15. megan_mayers 15 Jan 2020
  
  in Public
  
  Feeding difficulty
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0011968
  
  ClinGen hpoLookup monarchLookup HP:0011968 hpoLookup:individual individual:1 gene:MN1
16. megan_mayers 15 Jan 2020
  
  in Public
  
  narrow palate
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000189
  
  ClinGen hpoLookup monarchLookup HP:0000189 hpoLookup:individual individual:1 gene:MN1
17. megan_mayers 15 Jan 2020
  
  in Public
  
  Anteverted nares
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000463
  
  ClinGen hpoLookup monarchLookup HP:0000463 hpoLookup:individual individual:1 gene:MN1
18. megan_mayers 15 Jan 2020
  
  in Public
  
  Short nose
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003196
  
  ClinGen hpoLookup monarchLookup HP:0003196 hpoLookup:individual individual:1 gene:MN1
19. megan_mayers 15 Jan 2020
  
  in Public
  
  Depressed nasal ridge
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000457
  
  ClinGen hpoLookup monarchLookup HP:0000457 hpoLookup:individual individual:1 gene:MN1
20. megan_mayers 15 Jan 2020
  
  in Public
  
  Depressed nasal bridg
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0005280
  
  ClinGen hpoLookup monarchLookup HP:0005280 hpoLookup:individual individual:1 gene:MN1
21. 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:individual individual:1 gene:MN1
22. megan_mayers 15 Jan 2020
  
  in Public
  
  Posteriorly rotated ears
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000358
  
  ClinGen hpoLookup monarchLookup HP:0000358 hpoLookup:individual individual:1 gene:MN1
23. 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:individual individual:1 gene:MN1
24. megan_mayers 15 Jan 2020
  
  in Public
  
  High, arched eyebrow
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002553
  
  ClinGen hpoLookup monarchLookup HP:0002553 hpoLookup:individual individual:1 gene:MN1
25. megan_mayers 15 Jan 2020
  
  in Public
  
  Thick eyebrow
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000574
  
  ClinGen hpoLookup monarchLookup HP:0000574 hpoLookup:individual individual:1 gene:MN1
26. megan_mayers 15 Jan 2020
  
  in Public
  
  Flat face
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0012368
  
  ClinGen hpoLookup monarchLookup HP:0012368 hpoLookup:individual individual:1 gene:MN1
27. megan_mayers 15 Jan 2020
  
  in Public
  
  Prominent forehead
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0011220
  
  ClinGen hpoLookup monarchLookup HP:0011220 hpoLookup:individual individual:1 gene:MN1
28. 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
29. 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
30. 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
31. 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
32. 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
33. 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
34. 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
35. 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
36. 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
37. 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
38. 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
39. 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
40. 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
41. 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
42. 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
43. 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
44. megan_mayers 15 Jan 2020
  
  in Public
  
  MN1
  
  ClinGen gene:MN1 pmid:undefined
Visit annotations in context

Tags

HP:0000189

HP:0000457

HP:0000574

HP:0011968

HP:0012368

group:1

hpoLookup:group

HP:0001263

HP:0000369

ClinGen

allele:CA915940579

HP:0000316

HP:0011220

HP:0000358

alleleLookup:individual

HP:0003196

hpoLookup

individual:1

hpoLookup:individual

monarchLookup

HP:0005280

HP:0000463

HP:0011344

variant:72912

gene:MN1

variantLookup:individual

pmid:undefined

individual:2

HP:0000268

HP:0002167

alleleLookup

HP:0002591

allele:CA411033555

variantLookup

HP:0001290

individual:3

HP:0002553

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

pmid:undefined

gene:MN1

ClinGen

Annotators

megan_mayers

URL

sciencedirect.com/science/article/pii/S000292971930432X