ID

45194

Description

Principal Investigator: Steven R. Brant, MD, Johns Hopkins University, Baltimore, MD, USA MeSH: Crohn Disease,Colitis, Ulcerative,Inflammatory Bowel Diseases https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000367 The National Institute of Diabetes and Digestive and Kidney Diseases Inflammatory Bowel Disease Genetics Consortium (NIDDK - IBDGC) conducted a genome wide association study (GWAS) using the Human Omni2.5-Quad beadchip from Illumina to identify disease variants associated with familial Crohn's disease. This study includes a subset of individuals from an original cohort of affected subjects and affected/unaffected relatives from a previous linkage scan which showed increased linkage evidence at three novel risk loci. A total of 708 samples were selected based on various criteria for inclusion from the 6 Genetic Research Centers (GRC) in North America that participate in the IBDGC. This project was supported by an ancillary R01 grant from the NIDDK with resources made available through the IBDGC.

Link

dbGaP study = phs000367

Keywords

  1. 8/19/22 8/19/22 - Simon Heim
  2. 10/12/22 10/12/22 - Adrian Schulz
Copyright Holder

Steven R. Brant, MD, Johns Hopkins University, Baltimore, MD, USA

Uploaded on

October 12, 2022

DOI

To request one please log in.

License

Creative Commons BY 4.0

Model comments :

You can comment on the data model here. Via the speech bubbles at the itemgroups and items you can add comments to those specificially.

Itemgroup comments for :

Item comments for :

In order to download data models you must be logged in. Please log in or register for free.

dbGaP phs000367 Genome Wide Association Study in Familial Crohn's Disease

Subject ID, sex, race, affection status, and diagnosis of participants with or without Crohn's disease and involved in the "NIDDK Inflammatory Bowel Disease Genetics Consortium (IBDGC) Genome Wide Association Study in Familial Crohn's Disease" project.

pht003263
Description

pht003263

De-identified subject ID
Description

SUBJID

Data type

string

Alias
UMLS CUI [1,1]
C2346787
UMLS CUI [1,2]
C2348585
Gender of participant
Description

SEX

Data type

text

Alias
UMLS CUI [1,1]
C0079399
Race of participant [White]
Description

RACE

Data type

string

Alias
UMLS CUI [1,1]
C0034510
Inflammatory bowel disease affection status of participant [Affected, Unaffected]
Description

AFFECTION

Data type

string

Alias
UMLS CUI [1,1]
C0021390
IBD diagnosis of affected participant [Crohn's Disease, Ulcerative Colitis, Indeterminate Colitis]
Description

DIAGNOSIS

Data type

string

Alias
UMLS CUI [1,1]
C0021390
UMLS CUI [1,2]
C0010346
UMLS CUI [1,3]
C0009324
UMLS CUI [1,4]
C0341332

Similar models

Subject ID, sex, race, affection status, and diagnosis of participants with or without Crohn's disease and involved in the "NIDDK Inflammatory Bowel Disease Genetics Consortium (IBDGC) Genome Wide Association Study in Familial Crohn's Disease" project.

Name
Type
Description | Question | Decode (Coded Value)
Data type
Alias
Item Group
pht003263
SUBJID
Item
De-identified subject ID
string
C2346787 (UMLS CUI [1,1])
C2348585 (UMLS CUI [1,2])
Item
Gender of participant
text
C0079399 (UMLS CUI [1,1])
Code List
Gender of participant
CL Item
Male (1)
CL Item
Female (2)
RACE
Item
Race of participant [White]
string
C0034510 (UMLS CUI [1,1])
AFFECTION
Item
Inflammatory bowel disease affection status of participant [Affected, Unaffected]
string
C0021390 (UMLS CUI [1,1])
DIAGNOSIS
Item
IBD diagnosis of affected participant [Crohn's Disease, Ulcerative Colitis, Indeterminate Colitis]
string
C0021390 (UMLS CUI [1,1])
C0010346 (UMLS CUI [1,2])
C0009324 (UMLS CUI [1,3])
C0341332 (UMLS CUI [1,4])

Please use this form for feedback, questions and suggestions for improvements.

Fields marked with * are required.

Do you need help on how to use the search function? Please watch the corresponding tutorial video for more details and learn how to use the search function most efficiently.

Watch Tutorial