ID

45475

Description

Principal Investigator: Ray E Hershberger, The Ohio State University, Columbus, OH, USA MeSH: Cardiomyopathy, Dilated,Familial dilated cardiomyopathy,Idiopathic dilation cardiomyopathy https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000581 The NHLBI "Grand Opportunity" Exome Sequencing Project (GO-ESP), a signature project of the NHLBI Recovery Act investment, was designed to identify genetic variants in coding regions (exons) of the human genome (the "exome") that are associated with heart, lung and blood diseases. These and related diseases that are of high impact to public health and individuals from diverse racial and ethnic groups will be studied. These data may help researchers understand the causes of disease, contributing to better ways to prevent, diagnose, and treat diseases, as well as determine whether to tailor prevention and treatments to specific populations. This could lead to more effective treatments and reduce the likelihood of side effects. GO-ESP is comprised of five collaborative components: 3 cohort consortia - HeartGO, LungGO, and WHISP - and 2 sequencing centers - BroadGO and SeattleGO. The goals for this project are to conduct exome sequencing for novel dilated cardiomyopathy (DCM) gene discovery in families with DCM. These families have already been sequenced for 15 DCM genes, accounting for approximately 75% of known genetic cause, without rare coding variants identified.

Link

dbGap study = phs000581

Keywords

  1. 10/26/22 10/26/22 - Simon Heim
  2. 12/13/22 12/13/22 - Kristina Keller
Copyright Holder

Ray E Hershberger, The Ohio State University, Columbus, OH, USA

Uploaded on

December 13, 2022

DOI

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License

Creative Commons BY 4.0

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dbGaP phs000581 NHLBI GO-ESP: Family Studies (Dilated Cardiomyopathy)

Family ID, subject ID, mother ID, father ID, and sex of subjects with dilated cardiomyopathy and involved in the "NHLBI GO-ESP Family Studies: Dilated Cardiomyopathy" project.

pht003204
Description

pht003204

Family ID
Description

FAMID

Data type

text

Alias
UMLS CUI [1,1]
C0015576
UMLS CUI [1,2]
C2348585
Unique subject ID
Description

SUBJID

Data type

text

Alias
UMLS CUI [1,1]
C2348585
Mother's subject ID
Description

mother_ID

Data type

text

Alias
UMLS CUI [1,1]
C2348585
UMLS CUI [1,2]
C0026591
Father's subject ID
Description

father_ID

Data type

text

Alias
UMLS CUI [1,1]
C2348585
UMLS CUI [1,2]
C0015671
Sex
Description

SEX

Data type

text

Alias
UMLS CUI [1,1]
C0079399

Similar models

Family ID, subject ID, mother ID, father ID, and sex of subjects with dilated cardiomyopathy and involved in the "NHLBI GO-ESP Family Studies: Dilated Cardiomyopathy" project.

Name
Type
Description | Question | Decode (Coded Value)
Data type
Alias
Item Group
pht003204
FAMID
Item
Family ID
text
C0015576 (UMLS CUI [1,1])
C2348585 (UMLS CUI [1,2])
SUBJID
Item
Unique subject ID
text
C2348585 (UMLS CUI [1,1])
mother_ID
Item
Mother's subject ID
text
C2348585 (UMLS CUI [1,1])
C0026591 (UMLS CUI [1,2])
father_ID
Item
Father's subject ID
text
C2348585 (UMLS CUI [1,1])
C0015671 (UMLS CUI [1,2])
Item
Sex
text
C0079399 (UMLS CUI [1,1])
Code List
Sex
CL Item
Female (F)
CL Item
Male (M)
CL Item
Not applicable (NA)
CL Item
Unknown (UNK)

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