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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

Occurrence of B-cell lymphomas in patients with Activated Phosphoinositide 3-Kinase δ syndrome

1
1. Vibhor 27 Jun 2026
  
  in read_only_demo_group
  
  Occurrence of B-cell lymphomas in patients with Activated Phosphoinositide 3-Kinase δ syndrome
  
  PMID: 24698326
  
  Gene: PIK3CD
  
  HGNC: 8977
  
  ClinGen General Gene:PIK3CD HGNC:8977 Ab Deficiencies VCEP
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Gene:PIK3CD

ClinGen

General

Ab Deficiencies VCEP

HGNC:8977

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Vibhor

URL

ncbi.nlm.nih.gov/pmc/articles/PMC4671279/
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

Evaluation of Lymphoproliferative Disease and Increased Risk of Lymphoma in Activated Phosphoinositide 3 Kinase Delta Syndrome: A Case Report With Discussion

1
1. Vibhor 27 Jun 2026
  
  in read_only_demo_group
  
  Evaluation of Lymphoproliferative Disease and Increased Risk of Lymphoma in Activated Phosphoinositide 3 Kinase Delta Syndrome: A Case Report With Discussion
  
  PMID: 30619796
  
  Gene: PIK3CD
  
  HGNC: 8977
  
  ClinGen Gene:PIK3CD General HGNC:8977 Ab Deficiencies VCEP
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Gene:PIK3CD

ClinGen

General

Ab Deficiencies VCEP

HGNC:8977

Annotators

Vibhor

URL

ncbi.nlm.nih.gov/pmc/articles/PMC6305443/
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

Disease-related mutations in PI3Kγ disrupt regulatory C-terminal dynamics and reveal a path to selective inhibitors

1
1. Vibhor 27 Jun 2026
  
  in read_only_demo_group
  
  Disease-related mutations in PI3Kγ disrupt regulatory C-terminal dynamics and reveal a path to selective inhibitors
  
  PIK3CG variants p.Arg1021Cys and p.Arg1021Pro described and functionally characterized in experiments.
  
  General ClinGen Gene:PIK3CG HGNC:8978 Ab Deficiencies VCEP
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ClinGen

General

Gene:PIK3CG

HGNC:8978

Ab Deficiencies VCEP

Annotators

Vibhor

URL

ncbi.nlm.nih.gov/pmc/articles/PMC7955810/
www-sciencedirect-com.libproxy.lib.unc.edu www-sciencedirect-com.libproxy.lib.unc.edu

Dual loss of p110δ PI3-kinase and SKAP (KNSTRN) expression leads to combined immunodeficiency and multisystem syndromic features

1
1. Vibhor 27 Jun 2026
  
  in read_only_demo_group
  
  Dual loss of p110δ PI3-kinase and SKAP (KNSTRN) expression leads to combined immunodeficiency and multisystem syndromic features
  
  PMID: 29180244
  
  Gene: PIK3CD
  
  HGNC: 8977
  
  ClinGen General Gene:PIK3CD HGNC:8977 InsufficientEvidence Ab Deficiencies VCEP
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Gene:PIK3CD

ClinGen

General

InsufficientEvidence

Ab Deficiencies VCEP

HGNC:8977

Annotators

Vibhor

URL

www-sciencedirect-com.libproxy.lib.unc.edu/science/article/pii/S0091674917318146
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

The Selective Phosphoinoside-3-Kinase p110δ Inhibitor IPI-3063 Potently Suppresses B Cell Survival, Proliferation, and Differentiation

1
1. Vibhor 27 Jun 2026
  
  in read_only_demo_group
  
  The Selective Phosphoinoside-3-Kinase p110δ Inhibitor IPI-3063 Potently Suppresses B Cell Survival, Proliferation, and Differentiation
  
  PMID: 28713374
  
  Gene: PIK3CD
  
  HGNC: 8977
  
  ClinGen General Gene:PIK3CD HGNC:8977 NoEvidence Ab Deficiencies VCEP
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Gene:PIK3CD

ClinGen

NoEvidence

General

Ab Deficiencies VCEP

HGNC:8977

Annotators

Vibhor

URL

ncbi.nlm.nih.gov/pmc/articles/PMC5491903/
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

Hemophagocytic Lymphohistiocytosis in Activated PI3K Delta Syndrome: an Illustrative Case Report

1
1. Vibhor 27 Jun 2026
  
  in read_only_demo_group
  
  Hemophagocytic Lymphohistiocytosis in Activated PI3K Delta Syndrome: an Illustrative Case Report
  
  PMID: 34115277
  
  Gene: PIK3CD
  
  HGNC: 8977
  
  ClinGen General Gene:PIK3CD HGNC:8977 Ab Deficiencies VCEP
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Gene:PIK3CD

ClinGen

General

Ab Deficiencies VCEP

HGNC:8977

Annotators

Vibhor

URL

ncbi.nlm.nih.gov/pmc/articles/PMC8193594/
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

Overexpression of IGF-1 in Muscle Attenuates Disease in a Mouse Model of Spinal and Bulbar Muscular Atrophy

1
1. Vibhor 27 Jun 2026
  
  in read_only_demo_group
  
  Overexpression of IGF-1 in Muscle Attenuates Disease in a Mouse Model of Spinal and Bulbar Muscular Atrophy
  
  PMID: 19679072
  
  Gene: PIK3CD
  
  HGNC: 8977
  
  ClinGen General Gene:PIK3CD HGNC:8977 NoEvidence Ab Deficiencies VCEP
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Gene:PIK3CD

ClinGen

NoEvidence

General

Ab Deficiencies VCEP

HGNC:8977

Annotators

Vibhor

URL

ncbi.nlm.nih.gov/pmc/articles/PMC2735765/
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

Cholesterol metabolism drives regulatory B cell IL-10 through provision of geranylgeranyl pyrophosphate

1
1. Vibhor 27 Jun 2026
  
  in read_only_demo_group
  
  Cholesterol metabolism drives regulatory B cell IL-10 through provision of geranylgeranyl pyrophosphate
  
  PMID: 32641742
  
  Gene: PIK3CD
  
  HGNC: 8977
  
  ClinGen General Gene:PIK3CD HGNC:8977 NoEvidence Ab Deficiencies VCEP
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Gene:PIK3CD

ClinGen

NoEvidence

General

Ab Deficiencies VCEP

HGNC:8977

Annotators

Vibhor

URL

ncbi.nlm.nih.gov/pmc/articles/PMC7343868/
www-clinicalkey-com.libproxy.lib.unc.edu www-clinicalkey-com.libproxy.lib.unc.edu

Clinical characteristics of 30 Czech families with long QT syndrome and KCNQ1 and KCNH2 gene mutations: importance of exercise testing - ClinicalKey

1
1. Vibhor 27 Jun 2026
  
  in read_only_demo_group
  
  Early diagnosis of PI3Kδ syndrome in a 2 years old girl with recurrent otitis and enlarged spleen
  
  PMID: 28842185
  
  Gene: PIK3CD
  
  HGNC: 8977
  
  ClinGen General Gene:PIK3CD HGNC:8977 Ab Deficiencies VCEP
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Gene:PIK3CD

ClinGen

General

Ab Deficiencies VCEP

HGNC:8977

Annotators

Vibhor

URL

www-clinicalkey-com.libproxy.lib.unc.edu/
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov

Novel PI3Kγ mutation in a 44-year-old man with chronic infections and chronic pelvic pain

1
1. Vibhor 26 Jun 2026
  
  in read_only_demo_group
  
  Novel PI3Kγ mutation in a 44-year-old man with chronic infections and chronic pelvic pain
  
  PMID 23861857
  
  Heterozygous patient - Is a second variant unidentified? Or is this a dominant negative variant? Or misdiagnosed due to limited genotyping method in 2013?
  
  General ClinGen Gene:PIK3CG HGNC:8978 Ab Deficiencies VCEP
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ClinGen

General

Gene:PIK3CG

HGNC:8978

Ab Deficiencies VCEP

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Vibhor

URL

pubmed.ncbi.nlm.nih.gov/23861857/
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov

Polymorphism in the catalytic subunit of the PI3Kγ gene is associated with Trypanosoma cruzi-induced chronic chagasic cardiomyopathy

1
1. Vibhor 26 Jun 2026
  
  in read_only_demo_group
  
  Polymorphism in the catalytic subunit of the PI3Kγ gene is associated with Trypanosoma cruzi-induced chronic chagasic cardiomyopathy
  
  PMID: 33301989
  
  A PIK3CG variant in the catalytic domain is a risk factor for some infection-induced heart issue?
  
  General ClinGen Gene:PIK3CG HGNC:8978 Ab Deficiencies VCEP
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ClinGen

General

Gene:PIK3CG

HGNC:8978

Ab Deficiencies VCEP

Annotators

Vibhor

URL

pubmed.ncbi.nlm.nih.gov/33301989/
www-sciencedirect-com.libproxy.lib.unc.edu www-sciencedirect-com.libproxy.lib.unc.edu

Paediatric MAS/HLH caused by a novel monoallelic activating mutation in p110δ

1
1. Vibhor 26 Jun 2026
  
  in read_only_demo_group
  
  Paediatric MAS/HLH caused by a novel monoallelic activating mutation in p110δ
  
  PMID: 32681977
  
  Gene: PIK3CD
  
  HGNC: 8977
  
  ClinGen General Gene:PIK3CD HGNC:8977 Ab Deficiencies VCEP
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Gene:PIK3CD

ClinGen

General

Ab Deficiencies VCEP

HGNC:8977

Annotators

Vibhor

URL

www-sciencedirect-com.libproxy.lib.unc.edu/science/article/pii/S1521661620306483
www.mdpi.com www.mdpi.com

Activated Phosphoinositide 3-Kinase Delta Syndrome 1: Clinical and Immunological Data from an Italian Cohort of Patients

1
1. Vibhor 26 Jun 2026
  
  in read_only_demo_group
  
  Activated Phosphoinositide 3-Kinase Delta Syndrome 1: Clinical and Immunological Data from an Italian Cohort of Patients
  
  PMID: 33080915
  
  Gene: PIK3CD
  
  HGNC: 8977
  
  ClinGen General Gene:PIK3CD HGNC:8977 Ab Deficiencies VCEP
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Gene:PIK3CD

ClinGen

General

Ab Deficiencies VCEP

HGNC:8977

Annotators

Vibhor

URL

mdpi.com/2077-0383/9/10/3335
pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov

Identification of A Novel Mutation of SHORT Syndrome: A Case Report

1
1. Vibhor 23 Jun 2026
  
  in read_only_demo_group
  
  Identification of A Novel Mutation of SHORT Syndrome: A Case Report
  
  PMID: 40860302
  
  Interesting SHORT syndrome article requiring annotation.
  
  General ClinGen Gene:PIK3R1 HGNC:8979 Ab Deficiencies VCEP
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HGNC:8979

Ab Deficiencies VCEP

ClinGen

General

Gene:PIK3R1

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Vibhor

URL

pmc.ncbi.nlm.nih.gov/articles/PMC12376303/
Mar 2026
Local file Local file

Untitled document

1
1. gvibhor 20 Mar 2026
  
  in Public
  
  and the narrowing of the medullary cavity of tubular bones (C) (diaphyseal stenosis).
  
  Subject ID: Individual_2 Phenotype: Narrowing of the medullary cavity of tubular bones
  
  ClinGen-MVP Subject-Individual_2 AI-Extracted
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Subject-Individual_2

AI-Extracted

ClinGen-MVP

Annotators

gvibhor
Sep 2020
localhost:8001 localhost:8001

https://localhost:8001/test.html

3
1. judell 16 Sep 2020
  
  in Public
  
  variant id lookup result: http://localhost:8001/test.html
  
  ClinGen variantLookup variant:426075 variantLookup:individual individual:1 gene:TMEM260
2. judell 16 Sep 2020
  
  in Public
  
  truncus arteriosus
  
  Monarch lookup result: http://localhost:8001/test.html
  
  ClinGen hpoLookup monarchLookup HP:0001660 hpoLookup:individual individual:1 gene:TMEM260
3. judell 16 Sep 2020
  
  in Public
  
  TMEM260
  
  ClinGen gene:TMEM260 pmid:30057029
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individual:1

ClinGen

variantLookup

variantLookup:individual

gene:TMEM260

pmid:30057029

HP:0001660

hpoLookup

hpoLookup:individual

monarchLookup

variant:426075

Annotators

judell

URL

localhost:8001/test.html
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6482955/

1
1. yugen 16 Sep 2020
  
  in Public
  
  TP53
  
  ClinGen gene:TP53 pmid:30466751
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ClinGen

pmid:30466751

gene:TP53

Annotators

yugen

URL

ncbi.nlm.nih.gov/pmc/articles/PMC6482955/
Jan 2020
www.sciencedirect.com www.sciencedirect.com

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

3
1. may_flowers 22 Jan 2020
  
  in Public
  
  high arched palate
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000218
  
  ClinGen hpoLookup monarchLookup HP:0000218 hpoLookup:individual individual:1 gene:TPM3 case:notHPO
2. may_flowers 22 Jan 2020
  
  in Public
  
  TPM3
  
  ClinGen gene:TPM3 pmid:undefined
3. 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
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gene:TPM3

ClinGen

individual:1

pmid:undefined

HP:0000218

case:notHPO

HP:0003327

individual:2

gene:SGCG

hpoLookup

hpoLookup:individual

monarchLookup

Annotators

may_flowers

URL

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

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

103
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
  
  Open mouth appearance
  
  Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000194
  
  ClinGen hpoLookup monarchLookup HP:0000194 hpoLookup:individual individual:1 gene:NKAP
76. 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
77. 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
78. 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
79. 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
80. 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
81. 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
82. 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
83. 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
84. 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
85. 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
86. 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
87. 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
88. 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
89. 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
90. 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
91. 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
92. 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
93. 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
94. 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
95. 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
96. 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
97. 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
98. 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
99. 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
100. 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
101. 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
102. 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
103. 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

individual:5

HP:0001634

HP:0001629

HP:0000194

HP:0000276

HP:0001762

HP:0000718

HP:0001388

HP:0001290

HP:0012743

HP:0001263

HP:0001653

HP:0007018

individual:2

allele:CA414193300

allele:CA414193321

HP:0000098

HP:0001631

individual:4

hpoLookup:individual

HP:0000400

HP:0000767

ClinGen

pmid:undefined

alleleLookup:individual

HP:0002616

HP:0000322

HP:0012385

HP:0001643

hpoLookup

monarchLookup

group:1

HP:0001249

alleleLookup

individual:1

HP:0004942

gene:NKAP

HP:0000028

HP:0001166

allele:CA414193319

HP:0000768

individual:3

HP:0001533

HP:0002650

HP:0011800

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/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:0011220

HP:0000463

allele:CA915940579

variantLookup

HP:0003196

HP:0000574

HP:0012368

HP:0011968

HP:0001290

HP:0002591

HP:0000358

HP:0001263

HP:0000369

individual:2

variant:72912

hpoLookup:individual

HP:0000457

HP:0000189

ClinGen

pmid:undefined

gene:MN1

alleleLookup:individual

hpoLookup

HP:0000316

monarchLookup

group:1

alleleLookup

individual:1

allele:CA411033555

variantLookup:individual

HP:0011344

HP:0005280

individual:3

HP:0000268

HP:0002167

HP:0002553

hpoLookup:group

Annotators

megan_mayers

URL

sciencedirect.com/science/article/pii/S000292971930432X
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

HACD1, a regulator of membrane composition and fluidity, promotes myoblast fusion and skeletal muscle growth

1
1. may_flowers 15 Jan 2020
  
  in Public
  
  HACD1, a regulator of membrane composition and fluidity, promotes myoblast fusion and skeletal muscle growth
  
  PMID: 26160855
  
  Gene: HACD1
  
  Disease: Congenital Myopathy
  
  ClinGen General HACD1
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Tags

HACD1

ClinGen

General

Annotators

may_flowers

URL

ncbi.nlm.nih.gov/pmc/articles/PMC4589950/
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

pmid:undefined

gene:MN1

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

gene:POLR2A

ClinGen

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/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

individual:1

gene:SGCG

hpoLookup:individual

hpoLookup

HP:0003391

monarchLookup

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
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Tags

ClinGen

pmid:undefined

gene:NKAP

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
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Tags

ClinGen

individual:1

pmid:31194043

gene:SGCG

HP:0100295

hpoLookup

hpoLookup:individual

monarchLookup

HP:0410211

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
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Tags

alleleLookup

ClinGen

individual:7

allele:CA915940549

alleleLookup:individual

gene:TAOK1

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
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Tags

allele:CA398917343

alleleLookup

ClinGen

alleleLookup:individual

individual:8

gene:TAOK1

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

20
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
Visit annotations in context

Tags

HP:0200006

HP:0001763

ClinGen

individual:4

HP:0002705

alleleLookup:individual

individual:5

individual:6

gene:TAOK1

allele:CA399185143

allele:CA399189115

hpoLookup

HP:0001947

HP:0001382

monarchLookup

alleleLookup

individual:1

HP:0000369

individual:8

allele:CA398915284

HP:0002415

individual:2

individual:3

HP:0009815

allele:CA399193661

HP:0000175

HP:0001942

allele:CA399196709

hpoLookup:individual

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

alleleLookup

ClinGen

allele:CA399193709

alleleLookup:individual

individual:4

gene:TAOK1

Annotators

may_flowers

URL

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