176 Matching Annotations

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

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

108
1. megan_mayers 22 Jan 2020
  
  in Public
  
  Joint laxity
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001388
  
  ClinGen hpoLookup monarchLookup HP:0001388 hpoLookup:individual individual:5 gene:NKAP
2. megan_mayers 22 Jan 2020
  
  in Public
  
  Slender limbs
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001533
  
  ClinGen hpoLookup monarchLookup HP:0001533 hpoLookup:individual individual:5 gene:NKAP
3. megan_mayers 22 Jan 2020
  
  in Public
  
  carinatum
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000768
  
  ClinGen hpoLookup monarchLookup HP:0000768 hpoLookup:individual individual:5 gene:NKAP
4. megan_mayers 22 Jan 2020
  
  in Public
  
  Scoliosis
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002650
  
  ClinGen hpoLookup monarchLookup HP:0002650 hpoLookup:individual individual:5 gene:NKAP
5. megan_mayers 22 Jan 2020
  
  in Public
  
  Tall stature
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000098
  
  ClinGen hpoLookup monarchLookup HP:0000098 hpoLookup:individual individual:5 gene:NKAP
6. megan_mayers 22 Jan 2020
  
  in Public
  
  large ears
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000400
  
  ClinGen hpoLookup monarchLookup HP:0000400 hpoLookup:individual individual:5 gene:NKAP
7. megan_mayers 22 Jan 2020
  
  in Public
  
  Midface hypoplasia
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0011800
  
  ClinGen hpoLookup monarchLookup HP:0011800 hpoLookup:individual individual:5 gene:NKAP
8. megan_mayers 22 Jan 2020
  
  in Public
  
  Open mouth appearance
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000194
  
  ClinGen hpoLookup monarchLookup HP:0000194 hpoLookup:individual individual:5 gene:NKAP
9. megan_mayers 22 Jan 2020
  
  in Public
  
  Long face
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000276
  
  ClinGen hpoLookup monarchLookup HP:0000276 hpoLookup:individual individual:5 gene:NKAP
10. megan_mayers 22 Jan 2020
  
  in Public
  
  aggressive behavior
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000718
  
  ClinGen hpoLookup monarchLookup HP:0000718 hpoLookup:individual individual:5 gene:NKAP
11. megan_mayers 22 Jan 2020
  
  in Public
  
  intellectual disability
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001249
  
  ClinGen hpoLookup monarchLookup HP:0001249 hpoLookup:individual individual:5 gene:NKAP
12. megan_mayers 22 Jan 2020
  
  in Public
  
  Developmental delay
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001263
  
  ClinGen hpoLookup monarchLookup HP:0001263 hpoLookup:individual individual:5 gene:NKAP
13. megan_mayers 22 Jan 2020
  
  in Public
  
  allele id lookup result: https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA414193300
  
  ClinGen alleleLookup allele:CA414193300 alleleLookup:individual individual:5 gene:NKAP
14. megan_mayers 22 Jan 2020
  
  in Public
  
  Arachnodactyly
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001166
  
  ClinGen hpoLookup monarchLookup HP:0001166 hpoLookup:individual individual:4 gene:NKAP
15. megan_mayers 22 Jan 2020
  
  in Public
  
  Joint laxity
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001388
  
  ClinGen hpoLookup monarchLookup HP:0001388 hpoLookup:individual individual:4 gene:NKAP
16. megan_mayers 22 Jan 2020
  
  in Public
  
  Slender limbs
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001533
  
  ClinGen hpoLookup monarchLookup HP:0001533 hpoLookup:individual individual:4 gene:NKAP
17. megan_mayers 22 Jan 2020
  
  in Public
  
  Scoliosis
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002650
  
  ClinGen hpoLookup monarchLookup HP:0002650 hpoLookup:individual individual:4 gene:NKAP
18. megan_mayers 22 Jan 2020
  
  in Public
  
  Tall stature
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000098
  
  ClinGen hpoLookup monarchLookup HP:0000098 hpoLookup:individual individual:4 gene:NKAP
19. megan_mayers 22 Jan 2020
  
  in Public
  
  aortic root dilatation
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002616
  
  ClinGen hpoLookup monarchLookup HP:0002616 hpoLookup:individual individual:4 gene:NKAP
20. megan_mayers 22 Jan 2020
  
  in Public
  
  mitral regurgitation
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001653
  
  ClinGen hpoLookup monarchLookup HP:0001653 hpoLookup:individual individual:4 gene:NKAP
21. megan_mayers 22 Jan 2020
  
  in Public
  
  mitral valve prolapse
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001634
  
  ClinGen hpoLookup monarchLookup HP:0001634 hpoLookup:individual individual:4 gene:NKAP
22. megan_mayers 22 Jan 2020
  
  in Public
  
  large ears
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000400
  
  ClinGen hpoLookup monarchLookup HP:0000400 hpoLookup:individual individual:4 gene:NKAP
23. megan_mayers 22 Jan 2020
  
  in Public
  
  Midface hypoplasia
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0011800
  
  ClinGen hpoLookup monarchLookup HP:0011800 hpoLookup:individual individual:4 gene:NKAP
24. megan_mayers 22 Jan 2020
  
  in Public
  
  Open mouth appearance
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000194
  
  ClinGen hpoLookup monarchLookup HP:0000194 hpoLookup:individual individual:4 gene:NKAP
25. megan_mayers 22 Jan 2020
  
  in Public
  
  Short philtrum
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000322
  
  ClinGen hpoLookup monarchLookup HP:0000322 hpoLookup:individual individual:4 gene:NKAP
26. megan_mayers 22 Jan 2020
  
  in Public
  
  Long face
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000276
  
  ClinGen hpoLookup monarchLookup HP:0000276 hpoLookup:individual individual:4 gene:NKAP
27. megan_mayers 22 Jan 2020
  
  in Public
  
  Hypotonia
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001290
  
  ClinGen hpoLookup monarchLookup HP:0001290 hpoLookup:individual individual:4 gene:NKAP
28. megan_mayers 22 Jan 2020
  
  in Public
  
  aggressive behavior
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000718
  
  ClinGen hpoLookup monarchLookup HP:0000718 hpoLookup:individual individual:4 gene:NKAP
29. megan_mayers 22 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:NKAP
30. megan_mayers 22 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:NKAP
31. megan_mayers 22 Jan 2020
  
  in Public
  
  allele id lookup result: https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA414193300
  
  ClinGen alleleLookup allele:CA414193300 alleleLookup:individual individual:4 gene:NKAP
32. megan_mayers 22 Jan 2020
  
  in Public
  
  Arachnodactyly
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001166
  
  ClinGen hpoLookup monarchLookup HP:0001166 hpoLookup:individual individual:3 gene:NKAP
33. megan_mayers 22 Jan 2020
  
  in Public
  
  Camptodactyly
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0012385
  
  ClinGen hpoLookup monarchLookup HP:0012385 hpoLookup:individual individual:3 gene:NKAP
34. megan_mayers 22 Jan 2020
  
  in Public
  
  Joint laxity
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001388
  
  ClinGen hpoLookup monarchLookup HP:0001388 hpoLookup:individual individual:3 gene:NKAP
35. megan_mayers 22 Jan 2020
  
  in Public
  
  Slender limbs
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001533
  
  ClinGen hpoLookup monarchLookup HP:0001533 hpoLookup:individual individual:3 gene:NKAP
36. megan_mayers 22 Jan 2020
  
  in Public
  
  Scoliosis
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002650
  
  ClinGen hpoLookup monarchLookup HP:0002650 hpoLookup:individual individual:3 gene:NKAP
37. megan_mayers 22 Jan 2020
  
  in Public
  
  Tall stature
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000098
  
  ClinGen hpoLookup monarchLookup HP:0000098 hpoLookup:individual individual:3 gene:NKAP
38. megan_mayers 22 Jan 2020
  
  in Public
  
  mild mitral valve regurgitation
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001653
  
  ClinGen hpoLookup monarchLookup HP:0001653 hpoLookup:individual individual:3 gene:NKAP
39. megan_mayers 22 Jan 2020
  
  in Public
  
  Midface hypoplasia
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0011800
  
  ClinGen hpoLookup monarchLookup HP:0011800 hpoLookup:individual individual:3 gene:NKAP
40. megan_mayers 22 Jan 2020
  
  in Public
  
  Open mouth appearance
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000194
  
  ClinGen hpoLookup monarchLookup HP:0000194 hpoLookup:individual individual:3 gene:NKAP
41. megan_mayers 22 Jan 2020
  
  in Public
  
  Short philtrum
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000322
  
  ClinGen hpoLookup monarchLookup HP:0000322 hpoLookup:individual individual:3 gene:NKAP
42. megan_mayers 22 Jan 2020
  
  in Public
  
  Long face
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000276
  
  ClinGen hpoLookup monarchLookup HP:0000276 hpoLookup:individual individual:3 gene:NKAP
43. megan_mayers 22 Jan 2020
  
  in Public
  
  Hypotonia
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001290
  
  ClinGen hpoLookup monarchLookup HP:0001290 hpoLookup:individual individual:3 gene:NKAP
44. megan_mayers 22 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:NKAP
45. megan_mayers 22 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:NKAP
46. megan_mayers 22 Jan 2020
  
  in Public
  
  allele id lookup result: https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA414193300
  
  ClinGen alleleLookup allele:CA414193300 alleleLookup:individual individual:3 gene:NKAP
47. megan_mayers 22 Jan 2020
  
  in Public
  
  Arachnodactyly
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001166
  
  ClinGen hpoLookup monarchLookup HP:0001166 hpoLookup:individual individual:2 gene:NKAP
48. megan_mayers 22 Jan 2020
  
  in Public
  
  Joint laxity
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001388
  
  ClinGen hpoLookup monarchLookup HP:0001388 hpoLookup:individual individual:2 gene:NKAP
49. megan_mayers 22 Jan 2020
  
  in Public
  
  Slender limbs
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001533
  
  ClinGen hpoLookup monarchLookup HP:0001533 hpoLookup:individual individual:2 gene:NKAP
50. megan_mayers 22 Jan 2020
  
  in Public
  
  Scoliosis
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002650
  
  ClinGen hpoLookup monarchLookup HP:0002650 hpoLookup:individual individual:2 gene:NKAP
51. megan_mayers 22 Jan 2020
  
  in Public
  
  Tall stature
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000098
  
  ClinGen hpoLookup monarchLookup HP:0000098 hpoLookup:individual individual:2 gene:NKAP
52. megan_mayers 22 Jan 2020
  
  in Public
  
  small patent ductal arteriosus
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001643
  
  ClinGen hpoLookup monarchLookup HP:0001643 hpoLookup:individual individual:2 gene:NKAP
53. megan_mayers 22 Jan 2020
  
  in Public
  
  large ears
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000400
  
  ClinGen hpoLookup monarchLookup HP:0000400 hpoLookup:individual individual:2 gene:NKAP
54. megan_mayers 22 Jan 2020
  
  in Public
  
  Midface hypoplasia
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0011800
  
  ClinGen hpoLookup monarchLookup HP:0011800 hpoLookup:individual individual:2 gene:NKAP
55. megan_mayers 22 Jan 2020
  
  in Public
  
  Open mouth appearance
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000194
  
  ClinGen hpoLookup monarchLookup HP:0000194 hpoLookup:individual individual:2 gene:NKAP
56. megan_mayers 22 Jan 2020
  
  in Public
  
  Short philtrum
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000322
  
  ClinGen hpoLookup monarchLookup HP:0000322 hpoLookup:individual individual:2 gene:NKAP
57. megan_mayers 22 Jan 2020
  
  in Public
  
  Long face
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000276
  
  ClinGen hpoLookup monarchLookup HP:0000276 hpoLookup:individual individual:2 gene:NKAP
58. megan_mayers 22 Jan 2020
  
  in Public
  
  Hypotonia
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001290
  
  ClinGen hpoLookup monarchLookup HP:0001290 hpoLookup:individual individual:2 gene:NKAP
59. megan_mayers 22 Jan 2020
  
  in Public
  
  intellectual disability
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001249
  
  ClinGen hpoLookup monarchLookup HP:0001249 hpoLookup:individual individual:2 gene:NKAP
60. megan_mayers 22 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:NKAP
61. megan_mayers 22 Jan 2020
  
  in Public
  
  allele id lookup result: https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA414193319
  
  ClinGen alleleLookup allele:CA414193319 alleleLookup:individual individual:2 gene:NKAP
62. megan_mayers 22 Jan 2020
  
  in Public
  
  NKAP
  
  ClinGen gene:NKAP pmid:undefined
63. megan_mayers 15 Jan 2020
  
  in Public
  
  NKAP
  
  ClinGen gene:NKAP pmid:undefined
64. 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
65. 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
66. 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
67. 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
68. 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
69. 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
70. 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
71. 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
72. 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
73. 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
74. 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
75. megan_mayers 14 Jan 2020
  
  in Public
  
  Midface hypoplasia
  
  Subject 1 - NOT HPO
76. 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
77. 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
78. 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
79. 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
80. megan_mayers 14 Jan 2020
  
  in Public
  
  ADHD/aggressive behavio
  
  Subject 1 - Not HPOs
81. 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
82. 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
83. megan_mayers 14 Jan 2020
  
  in Public
  
  none of the subjects with NKAP mutations were known to have hematological or immunological manifestations.
  
  NOT HPOs
84. 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
85. 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
86. 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
87. 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
88. 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
89. 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
90. 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
91. 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
92. 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
93. 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
94. 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
95. 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
96. 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
97. 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
98. 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
99. 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
100. 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
101. 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
102. 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
103. megan_mayers 14 Jan 2020
  
  in Public
  
  facial dysmorphisms
  
  HPO free text
104. 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
105. megan_mayers 14 Jan 2020
  
  in Public
  
  Marfanoid habitus
  
  HPO free text
106. 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
107. 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
108. 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

HP:0011800

individual:2

hpoLookup:group

hpoLookup:individual

gene:NKAP

individual:1

individual:5

HP:0000767

HP:0000400

HP:0002650

HP:0000718

hpoLookup

HP:0001166

HP:0012385

HP:0001643

HP:0000768

HP:0001290

HP:0001631

HP:0001388

HP:0007018

HP:0001263

monarchLookup

individual:4

HP:0002616

HP:0001653

HP:0004942

pmid:undefined

HP:0001634

HP:0000098

HP:0000276

individual:3

HP:0000194

allele:CA414193321

ClinGen

group:1

HP:0000028

allele:CA414193319

HP:0001533

alleleLookup

alleleLookup:individual

HP:0001762

HP:0001249

HP:0000322

HP:0012743

HP:0001629

allele:CA414193300

Annotators

megan_mayers

URL

sciencedirect.com/science/article/pii/S0002929719303489
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

individual:2

HP:0002167

allele:CA915940579

hpoLookup:group

hpoLookup:individual

HP:0003196

HP:0000457

HP:0000189

HP:0011968

individual:1

HP:0000369

HP:0002553

hpoLookup

HP:0002591

variantLookup

variantLookup:individual

allele:CA411033555

HP:0001290

HP:0000463

HP:0000574

HP:0001263

monarchLookup

variant:72912

gene:MN1

HP:0012368

HP:0000316

HP:0000358

pmid:undefined

individual:3

group:1

HP:0005280

ClinGen

HP:0011220

HP:0011344

alleleLookup

alleleLookup:individual

HP:0000268

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
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

pmid:undefined

gene:POLR2A

ClinGen

Annotators

megan_mayers

URL

sciencedirect.com/science/article/pii/S0002929719302411
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

pmid:undefined

gene:NKAP

ClinGen

Annotators

megan_mayers

URL

sciencedirect.com/science/article/pii/S0002929719303489
Dec 2019
www.sciencedirect.com www.sciencedirect.com

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

4
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
  
  The cohort
  
  Group 1
4. megan_mayers 23 Dec 2019
  
  in Public
  
  POLR2A
  
  ClinGen gene:POLR2A pmid:undefined
Visit annotations in context

Tags

hpoLookup:individual

HP:0001290

individual:6

pmid:undefined

individual:1

ClinGen

monarchLookup

hpoLookup

gene:POLR2A

Annotators

megan_mayers

URL

sciencedirect.com/science/article/pii/S0002929719302411
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

ClinGen

gene:NKAP

pmid:undefined

Annotators

megan_mayers

URL

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

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

2
1. megan_mayers 05 Dec 2019
  
  in Public
  
  Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation
  
  Test
2. megan_mayers 05 Dec 2019
  
  in Public
  
  DDX6
  
  ClinGen gene:DDX6 pmid:undefined
Visit annotations in context

Tags

pmid:undefined

gene:DDX6

ClinGen

Annotators

megan_mayers

URL

sciencedirect.com/science/article/pii/S0002929719302733
Nov 2019
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

gene:MYH7

ClinGen

Annotators

megan_mayers

URL

ncbi.nlm.nih.gov/pmc/articles/PMC4936326/
Aug 2019
www.cell.com www.cell.com

Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome

12
1. megan_mayers 12 Aug 2019
  
  in Public
  
  cervical malformations
  
  FreeText
  
  Families D and E
2. megan_mayers 12 Aug 2019
  
  in Public
  
  Lumbar gibbus
  
  Monarch lookup result: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5294674/#annotations:NNq7xL0dEemwJUvA1NrCBA
  
  ClinGen hpoLookup monarchLookup HP:0008454 phenotype:family family:4 gene:EXTL3
3. megan_mayers 12 Aug 2019
  
  in Public
  
  disproportionate stature
  
  Monarch lookup result: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5294674/#annotations:NNq7xL0dEemwJUvA1NrCBA
  
  ClinGen hpoLookup monarchLookup HP:0003498 phenotype:family family:5 gene:EXTL3
4. megan_mayers 12 Aug 2019
  
  in Public
  
  disproportionate stature
  
  Monarch lookup result: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5294674/#annotations:NNq7xL0dEemwJUvA1NrCBA
  
  ClinGen hpoLookup monarchLookup HP:0003498 phenotype:family family:4 gene:EXTL3
5. megan_mayers 12 Aug 2019
  
  in Public
  
  disproportionate stature
  
  Monarch lookup result: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5294674/#annotations:NNq7xL0dEemwJUvA1NrCBA
  
  ClinGen hpoLookup monarchLookup HP:0003498 phenotype:family family:3 gene:EXTL3
6. megan_mayers 12 Aug 2019
  
  in Public
  
  platyspondyly
  
  Monarch lookup result: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5294674/#annotations:NNq7xL0dEemwJUvA1NrCBA
  
  ClinGen hpoLookup monarchLookup HP:0000926 phenotype:family family:5 gene:EXTL3
7. megan_mayers 12 Aug 2019
  
  in Public
  
  platyspondyly
  
  Monarch lookup result: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5294674/#annotations:NNq7xL0dEemwJUvA1NrCBA
  
  ClinGen hpoLookup monarchLookup HP:0000926 phenotype:family family:4 gene:EXTL3
8. megan_mayers 12 Aug 2019
  
  in Public
  
  platyspondyly
  
  Monarch lookup result: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5294674/#annotations:NNq7xL0dEemwJUvA1NrCBA
  
  ClinGen hpoLookup monarchLookup HP:0000926 phenotype:family family:3 gene:EXTL3
9. megan_mayers 12 Aug 2019
  
  in Public
  
  Lumbar gibbus
  
  Monarch lookup result: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5294674/#annotations:NNq7xL0dEemwJUvA1NrCBA
  
  ClinGen hpoLookup monarchLookup HP:0008454 phenotype:family family:3 gene:EXTL3
10. megan_mayers 12 Aug 2019
  
  in Public
  
  disproportionate stature
  
  Monarch lookup result: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5294674/#annotations:NNq7xL0dEemwJUvA1NrCBA
  
  ClinGen hpoLookup monarchLookup HP:0003498 phenotype:family family:1 gene:EXTL3
11. megan_mayers 12 Aug 2019
  
  in Public
  
  platyspondyly
  
  Monarch lookup result: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5294674/#annotations:NNq7xL0dEemwJUvA1NrCBA
  
  ClinGen hpoLookup monarchLookup HP:0000926 phenotype:family family:1 gene:EXTL3
12. megan_mayers 12 Aug 2019
  
  in Public
  
  EXTL3
  
  ClinGen gene:EXTL3 pmid:28132690
Visit annotations in context

Tags

pmid:28132690

family:3

family:4

phenotype:family

family:1

HP:0000926

ClinGen

gene:EXTL3

hpoLookup

HP:0008454

HP:0003498

family:5

monarchLookup

Annotators

megan_mayers

URL

cell.com/ajhg/fulltext/S0002-9297(17)30013-7

megan_mayers

Annotations: 176

Joined: September 15, 2017

Top tags 50