Hypothesis

35 Matching Annotations

Aug 2019
www.cell.com www.cell.com

Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome

11
1. 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
2. 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
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:4 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:3 gene:EXTL3
5. 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
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:4 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:3 gene:EXTL3
8. 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
9. 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
10. 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
11. megan_mayers 12 Aug 2019
  
  in Public
  
  EXTL3
  
  ClinGen gene:EXTL3 pmid:28132690
Visit annotations in context

Tags

gene:EXTL3

family:1

family:5

HP:0003498

HP:0000926

pmid:28132690

HP:0008454

ClinGen

monarchLookup

family:3

phenotype:family

hpoLookup

family:4

Annotators

megan_mayers

URL

cell.com/ajhg/fulltext/S0002-9297(17)30013-7
Aug 2018
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5537416/

1
1. judell 17 Aug 2018
  
  in Public
  
  EXTL3
  
  ClinGen gene:EXTL3 pmid:28331220 doi:10.1038/jhg.2017.38
Visit annotations in context

Tags

ClinGen

doi:10.1038/jhg.2017.38

gene:EXTL3

pmid:28331220

Annotators

judell

URL

ncbi.nlm.nih.gov/pmc/articles/PMC5537416/
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5339678/

4
1. cthaxton 03 Aug 2018
  
  in Public
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0004060
  
  ClinGen hpoLookup monarchLookup gene:EXTL3
2. cthaxton 03 Aug 2018
  
  in Public
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003375
  
  ClinGen hpoLookup monarchLookup gene:EXTL3
3. cthaxton 03 Aug 2018
  
  in Public
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000926
  
  ClinGen hpoLookup monarchLookup gene:EXTL3
4. cthaxton 03 Aug 2018
  
  in Public
  
  EXTL3
  
  ClinGen gene:EXTL3 pmid:28148688 doi:10.1084/jem.20161525
Visit annotations in context

Tags

pmid:28148688

gene:EXTL3

ClinGen

monarchLookup

doi:10.1084/jem.20161525

hpoLookup

Annotators

cthaxton

URL

ncbi.nlm.nih.gov/pmc/articles/PMC5339678/
Jul 2018
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5339678/

6
1. cthaxton 15 Jul 2018
  
  in Public
  
  ClinVar variant ID lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/417794/
  
  ClinGen variantIdLookup gene:EXTL3
2. cthaxton 15 Jul 2018
  
  in Public
  
  ClinVar variant ID lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/417796/
  
  ClinGen variantIdLookup gene:EXTL3
3. cthaxton 15 Jul 2018
  
  in Public
  
  Mseqdr lookup result: https://mseqdr.org/hpo_browser.php?4060;
  
  ClinGen hpoLookup mseqdrLookup gene:EXTL3
4. cthaxton 15 Jul 2018
  
  in Public
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003375
  
  ClinGen hpoLookup monarchLookup gene:EXTL3
5. cthaxton 15 Jul 2018
  
  in Public
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000926
  
  ClinGen hpoLookup monarchLookup gene:EXTL3
6. cthaxton 15 Jul 2018
  
  in Public
  
  EXTL3
  
  ClinGen gene:EXTL3 pmid:28148688 doi:10.1084/jem.20161525
Visit annotations in context

Tags

pmid:28148688

gene:EXTL3

ClinGen

mseqdrLookup

monarchLookup

doi:10.1084/jem.20161525

variantIdLookup

hpoLookup

Annotators

cthaxton

URL

ncbi.nlm.nih.gov/pmc/articles/PMC5339678/
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5537416/

7
1. cthaxton 15 Jul 2018
  
  in Public
  
  ClinGen allele ID lookup result: https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_001440.3%3Ac.953C%3ET
  
  ClinGen alleleIdLookup gene:EXTL3
2. cthaxton 15 Jul 2018
  
  in Public
  
  EXTL3
  
  ClinGen gene:EXTL3 pmid:28331220 doi:10.1038/jhg.2017.38
3. cthaxton 15 Jul 2018
  
  in Public
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0005306
  
  ClinGen hpoLookup monarchLookup gene:EXTL3
4. cthaxton 15 Jul 2018
  
  in Public
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0005280
  
  ClinGen hpoLookup monarchLookup gene:EXTL3
5. cthaxton 15 Jul 2018
  
  in Public
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000520
  
  ClinGen hpoLookup monarchLookup gene:EXTL3
6. cthaxton 15 Jul 2018
  
  in Public
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000520
  
  ClinGen hpoLookup monarchLookup gene:EXTL3
7. cthaxton 15 Jul 2018
  
  in Public
  
  EXTL3
  
  ClinGen gene:EXTL3 pmid:28331220 doi:10.1038/jhg.2017.38
Visit annotations in context

Tags

doi:10.1038/jhg.2017.38

alleleIdLookup

pmid:28331220

gene:EXTL3

ClinGen

monarchLookup

hpoLookup

Annotators

cthaxton

URL

ncbi.nlm.nih.gov/pmc/articles/PMC5537416/
Jun 2018
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5537416/

3
1. cthaxton 28 Jun 2018
  
  in Public
  
  delayed motor development
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002194
  
  ClinGen hpoLookup monarchLookup gene:EXTL3
2. cthaxton 28 Jun 2018
  
  in Public
  
  hyperbilirubinemia
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002904
  
  ClinGen hpoLookup monarchLookup gene:EXTL3
3. cthaxton 28 Jun 2018
  
  in Public
  
  EXTL3
  
  ClinGen gene:EXTL3 pmid:28331220 doi:10.1038/jhg.2017.38
Visit annotations in context

Tags

doi:10.1038/jhg.2017.38

pmid:28331220

gene:EXTL3

ClinGen

monarchLookup

hpoLookup

Annotators

cthaxton

URL

ncbi.nlm.nih.gov/pmc/articles/PMC5537416/
jem.rupress.org jem.rupress.org

EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay

3
1. cthaxton 20 Jun 2018
  
  in Public
  
  KLHL4
  
  Monarch lookup result: https://www.sciencedirect.com/science/article/pii/S0888754300964784?via%3Dihub
  
  ClinGen hpoLookup monarchLookup gene:EXTL3
2. cthaxton 20 Jun 2018
  
  in Public
  
  KLHL4
  
  Monarch lookup result: https://www.sciencedirect.com/science/article/pii/S0888754300964784?via%3Dihub
  
  ClinGen hpoLookup monarchLookup gene:EXTL3
3. cthaxton 20 Jun 2018
  
  in Public
  
  EXTL3
  
  ClinGen gene:EXTL3 pmid:28148688 doi:10.1084/jem.20161525
Visit annotations in context

Tags

pmid:28148688

gene:EXTL3

ClinGen

monarchLookup

doi:10.1084/jem.20161525

hpoLookup

Annotators

cthaxton

URL

jem.rupress.org/content/214/3/623