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.

Lien

dbGaP-study=phs001112

Mots-clés

  1. 19/06/2023 19/06/2023 - Chiara Middel
Détendeur de droits

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

Téléchargé le

19 juin 2023

DOI

Pour une demande vous connecter.

Licence

Creative Commons BY 4.0

Modèle Commentaires :

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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

Type de données

string

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

Gender

Type de données

string

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

Phenotype

Type de données

string

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

Copystate

Type de données

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)
Type de données
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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