ID

45772

Description

Principal Investigator: Stephen Chanock, National Cancer Institute, National Health Institute, Bethesda, MD, USA MeSH: Neoplasm https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001112 This study investigates methylation patterns in promoter regions on the X chromosomes of females with X chromosome mosaicism in an effort to phase mosaic events to either the active or inactive X chromosome.

Link

dbGaP-study=phs001112

Keywords

  1. 6/19/23 6/19/23 - Chiara Middel
Copyright Holder

Stephen Chanock, National Cancer Institute, National Health Institute, Bethesda, MD, USA

Uploaded on

June 19, 2023

DOI

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License

Creative Commons BY 4.0

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dbGaP phs001112 Chromosome X Mosaicism Methylation Study

Subject ID, gender, phenotype of participants, and copy state (mosaic type) of participant [Gain, Loss, Neutral] and involved in the "Chromosome X Mosaicism Methylation Study" project.

pht005472
Description

pht005472

Alias
UMLS CUI [1,1]
C3846158
De-identified subject ID
Description

SUBJECT_ID

Data type

string

Alias
UMLS CUI [1,1]
C4684638
UMLS CUI [1,2]
C2348585
Gender of participant [Male, Female]
Description

Gender

Data type

string

Alias
UMLS CUI [1,1]
C0079399
Phenotype of participant [Mosaic X]
Description

Phenotype

Data type

string

Alias
UMLS CUI [1,1]
C0031437
Copy state (mosaic type) of participant [Gain, Loss, Neutral]
Description

Copystate

Data type

string

Alias
UMLS CUI [1,1]
C0314654
UMLS CUI [1,2]
C0332307

Similar models

Subject ID, gender, phenotype of participants, and copy state (mosaic type) of participant [Gain, Loss, Neutral] and involved in the "Chromosome X Mosaicism Methylation Study" project.

Name
Type
Description | Question | Decode (Coded Value)
Data type
Alias
Item Group
pht005472
C3846158 (UMLS CUI [1,1])
SUBJECT_ID
Item
De-identified subject ID
string
C4684638 (UMLS CUI [1,1])
C2348585 (UMLS CUI [1,2])
Gender
Item
Gender of participant [Male, Female]
string
C0079399 (UMLS CUI [1,1])
Phenotype
Item
Phenotype of participant [Mosaic X]
string
C0031437 (UMLS CUI [1,1])
Copystate
Item
Copy state (mosaic type) of participant [Gain, Loss, Neutral]
string
C0314654 (UMLS CUI [1,1])
C0332307 (UMLS CUI [1,2])

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