ID

45918

Description

Principal Investigator: Chunhua Weng, PhD, Department of Biomedical Informatics, Columbia University, College of Physicians and Surgeons, New York, NY, USA MeSH: NA,Renal Insufficiency, Chronic,Alzheimer Disease,Aortic Aneurysm, Abdominal,Asthma,Attention Deficit Disorder with Hyperactivity,Clostridium difficile,Dermatitis, Atopic,Diabetes Mellitus, Type 2,Heart Diseases,Herpes Zoster,Hypothyroidism,Methicillin-Resistant Staphylococcus aureus,Prostatic Hyperplasia https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000961 The Columbia GENIE study contributes and shares phenotype and genotype data for individuals who were treated with our healthcare facilities and consented to share their data with dbGaP for scientific discovery. Some of these individuals have kidney or neurological problems and some are healthy volunteers from the Washington Height patient community. The purpose of this NOMAS study is to obtain information about physical features of the brain, carotid arteries, and heart. Some of our patients are pediatric patients with cardiac conditions. The study sample consists of four patient cohorts: - Northern Manhattan Study (NOMAS), N=1072 - Pediatric Cardiac Genomic Consortium (PCGC), n=374 - Caribbean Hispanics with Familial and Sporadic Late Onset Alzheimer's disease (Caribbean Hispanics/AD), n=330 - Alzheimer's Disease Sequencing Project (ADSP, n=44) - Genetics of Chronic Kidney Disease Study, n=1256

Link

dbGaP study = phs000961

Keywords

Versions (1)
  1. 1/31/24 1/31/24 - Simon Heim
Copyright Holder

Chunhua Weng, PhD, Department of Biomedical Informatics, Columbia University, College of Physicians and Surgeons, New York, NY, USA

Uploaded on

January 31, 2024

DOI

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License

Creative Commons BY 4.0
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dbGaP phs000961 eMERGE III: Columbia GENIE (Genomic Integration with EHR)

English

The dataset informs about medical history of participants, i.e. diagnoses obtained (affected/unaffected) for: Abdominal aortic aneurysm, ADHD, asthma, atopic dermatitis, atherosclerosis (carotid artery), BPH, chronic kidney disease, clostridium difficile, community associated Methicillin-resistant staphylococcus aureus, herpes zoster, hypothyroidism, major adverse cardiac events (while on statins), type 2 diabetes, and provides basic sociodemographic information.

5 forms  
pht005332
Description

pht005332

Alias
UMLS CUI [1,1]
C3846158
Subject ID
Description

SUBJID

Data type

text

Alias
UMLS CUI [1,1]
C2348585
Year of birth
Description

Year_Birth

Data type

text

Measurement units
  • Gregorian calendar year
Alias
UMLS CUI [1,1]
C2826771
Gregorian calendar year
Gender of Subject
Description

Sex

Data type

text

Alias
UMLS CUI [1,1]
C0079399
Race of Subject
Description

Race

Data type

text

Alias
UMLS CUI [1,1]
C0034510
Ethnicity of Subject
Description

Ethnicity

Data type

text

Alias
UMLS CUI [1,1]
C5441552
Major Adverse Cardiac Events While On Statins - Phenotype Status of Subject
Description

Major_Adverse_Cardiac_Events_While_On_Statins_Phenotype

Data type

text

Alias
UMLS CUI [1,1]
C5691385
UMLS CUI [1,2]
C0750519
UMLS CUI [1,3]
C0087111
UMLS CUI [1,4]
C3824679
UMLS CUI [1,5]
C0031437
Atopic Dermatitis - Phenotype Status of Subject
Description

Atopic_Dermatitis_Phenotype

Data type

text

Alias
UMLS CUI [1,1]
C0011615
UMLS CUI [1,2]
C0031437
Appendicitis - Phenotype Status of Subject
Description

Appendicitis_Phenotype

Data type

text

Alias
UMLS CUI [1,1]
C0003615
UMLS CUI [1,2]
C0031437
Cardiorespiratory Fitness - Phenotype Status of Subject
Description

Cardiorespiratory_Fitness_Phenotype

Data type

text

Alias
UMLS CUI [1,1]
C2981722
UMLS CUI [1,2]
C0031437
Gastroesophageal Reflux Disease - Phenotype Status of Subject
Description

Gastroesophageal_Reflux_Disease_Phenotype

Data type

text

Alias
UMLS CUI [1,1]
C0017168
UMLS CUI [1,2]
C0031437
Asthma - Phenotype Status of Subject
Description

Asthma_Phenotype

Data type

text

Alias
UMLS CUI [1,1]
C0004096
UMLS CUI [1,2]
C0031437
Dementia - Phenotype Status of Subject
Description

Dementia_Phenotype

Data type

text

Alias
UMLS CUI [1,1]
C0497327
UMLS CUI [1,2]
C0031437
ADHD - Phenotype Status of Subject
Description

ADHD_Phenotype

Data type

text

Alias
UMLS CUI [1,1]
C1263846
UMLS CUI [1,2]
C0031437
Benign Prostatic Hyperplasia - Phenotype Status of Subject
Description

Benign_Prostatetic_Hyperplasia_Phenotype

Data type

text

Alias
UMLS CUI [1,1]
C0031437
UMLS CUI [1,2]
C1704272
Hypothyroidism - Phenotype Status of Subject
Description

Hypothyroidism_Phenotype

Data type

text

Alias
UMLS CUI [1,1]
C0020676
UMLS CUI [1,2]
C0031437
Abdominal Aortic Aneurysm - Phenotype Status of Subject
Description

Abdominal_Aortic_Aneurysm_Phenotype

Data type

text

Alias
UMLS CUI [1,1]
C0162871
UMLS CUI [1,2]
C0031437
Herpes Zoster - Phenotype Status of Subject
Description

Herpes_Zoster_Phenotype

Data type

text

Alias
UMLS CUI [1,1]
C0019360
UMLS CUI [1,2]
C0031437
Resistant Hypertension - Phenotype Status of Subject
Description

Resistant_Hypertension_Phenotype

Data type

text

Alias
UMLS CUI [1,1]
C0020538
UMLS CUI [1,2]
C0205269
UMLS CUI [1,3]
C0031437
Carotid Artery Atherosclerosis Disease - Phenotype Status of Subject
Description

Carotid_Artery_Atherosclerosis_Disease_Phenotype

Data type

text

Alias
UMLS CUI [1,1]
C0031437
UMLS CUI [1,2]
C0577631
Type 2 Diabetes Mellitus - Phenotype Status of Subject
Description

Type_2_Diabetes_Mellitus_Phenotype

Data type

text

Alias
UMLS CUI [1,1]
C0031437
UMLS CUI [1,2]
C4014362
Chronic Kidney Disease - Phenotype Status of Subject
Description

Chronic_Kidney_Disease_Phenotype

Data type

text

Alias
UMLS CUI [1,1]
C0022661
UMLS CUI [1,2]
C0031437
Clostridium Difficile - Phenotype Status of Subject
Description

Clostridium_Difficile_Phenotype

Data type

text

Alias
UMLS CUI [1,1]
C0079134
UMLS CUI [1,2]
C0031437
Community Associated Methicillin Resistant Staphylococcus Aureus - Phenotype Status of Subject
Description

Community_Associated_Methicillin_Resistant_Staphylococcus_Aureus_Phenotype

Data type

text

Alias
UMLS CUI [1,1]
C0009462
UMLS CUI [1,2]
C1265292
UMLS CUI [1,3]
C0031437
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Similar models

The dataset informs about medical history of participants, i.e. diagnoses obtained (affected/unaffected) for: Abdominal aortic aneurysm, ADHD, asthma, atopic dermatitis, atherosclerosis (carotid artery), BPH, chronic kidney disease, clostridium difficile, community associated Methicillin-resistant staphylococcus aureus, herpes zoster, hypothyroidism, major adverse cardiac events (while on statins), type 2 diabetes, and provides basic sociodemographic information.

5 forms
Name
Type
Description | Question | Decode (Coded Value)
Data type
Alias
Item Group
pht005332
C3846158 (UMLS CUI [1,1])
SUBJID
Item
Subject ID
text
C2348585 (UMLS CUI [1,1])
Year_Birth
Item
Year of birth
text
C2826771 (UMLS CUI [1,1])
Item
Gender of Subject
text
C0079399 (UMLS CUI [1,1])
Sex
Code List
Gender of Subject
CL Item
Female (F)
C0086287 (UMLS CUI [1,1])
CL Item
Male (M)
C0086582 (UMLS CUI [1,1])
CL Item
Unknown (U)
C0439673 (UMLS CUI [1,1])
Item
Race of Subject
text
C0034510 (UMLS CUI [1,1])
Race
Code List
Race of Subject
CL Item
ASIAN (A)
C0078988 (UMLS CUI [1,1])
CL Item
BLACK/NON-HISPANIC (B)
C0085756 (UMLS CUI [1,1])
C1518424 (UMLS CUI [1,2])
CL Item
AMERICAN INDIAN/ALASKAN (I)
C1515945 (UMLS CUI [1,1])
CL Item
Other (O)
C0205394 (UMLS CUI [1,1])
CL Item
PACIFIC ISLANDER (P)
C1513907 (UMLS CUI [1,1])
CL Item
UNKNOWN (U)
C0439673 (UMLS CUI [1,1])
CL Item
WHITE/NON-HISPANIC (W)
C0007457 (UMLS CUI [1,1])
Item
Ethnicity of Subject
text
C5441552 (UMLS CUI [1,1])
Ethnicity
Code List
Ethnicity of Subject
CL Item
Hispanic (H)
C0086409 (UMLS CUI [1,1])
CL Item
Non-Hispanic (N)
C1518424 (UMLS CUI [1,1])
CL Item
UNKNOWN (U)
C0439673 (UMLS CUI [1,1])
Item
Major Adverse Cardiac Events While On Statins - Phenotype Status of Subject
text
C5691385 (UMLS CUI [1,1])
C0750519 (UMLS CUI [1,2])
C0087111 (UMLS CUI [1,3])
C3824679 (UMLS CUI [1,4])
C0031437 (UMLS CUI [1,5])
Major_Adverse_Cardiac_Events_While_On_Statins_Phenotype
Code List
Major Adverse Cardiac Events While On Statins - Phenotype Status of Subject
CL Item
Affected (1)
C3274647 (UMLS CUI [1,1])
CL Item
Not affected (2)
C0522477 (UMLS CUI [1,1])
CL Item
Not ascertained (3)
C1882118 (UMLS CUI [1,1])
Item
Atopic Dermatitis - Phenotype Status of Subject
text
C0011615 (UMLS CUI [1,1])
C0031437 (UMLS CUI [1,2])
Atopic_Dermatitis_Phenotype
Code List
Atopic Dermatitis - Phenotype Status of Subject
CL Item
Affected (1)
C3274647 (UMLS CUI [1,1])
CL Item
Not affected (2)
C0522477 (UMLS CUI [1,1])
CL Item
Not ascertained (3)
C1882118 (UMLS CUI [1,1])
Item
Appendicitis - Phenotype Status of Subject
text
C0003615 (UMLS CUI [1,1])
C0031437 (UMLS CUI [1,2])
Appendicitis_Phenotype
Code List
Appendicitis - Phenotype Status of Subject
CL Item
Affected (1)
C3274647 (UMLS CUI [1,1])
CL Item
Not affected (2)
C0522477 (UMLS CUI [1,1])
CL Item
Not ascertained (3)
C1882118 (UMLS CUI [1,1])
Item
Cardiorespiratory Fitness - Phenotype Status of Subject
text
C2981722 (UMLS CUI [1,1])
C0031437 (UMLS CUI [1,2])
Cardiorespiratory_Fitness_Phenotype
Code List
Cardiorespiratory Fitness - Phenotype Status of Subject
CL Item
Affected (1)
C3274647 (UMLS CUI [1,1])
CL Item
Not affected (2)
C0522477 (UMLS CUI [1,1])
CL Item
Not ascertained (3)
C1882118 (UMLS CUI [1,1])
Item
Gastroesophageal Reflux Disease - Phenotype Status of Subject
text
C0017168 (UMLS CUI [1,1])
C0031437 (UMLS CUI [1,2])
Gastroesophageal_Reflux_Disease_Phenotype
Code List
Gastroesophageal Reflux Disease - Phenotype Status of Subject
CL Item
Affected (1)
C3274647 (UMLS CUI [1,1])
CL Item
Not affected (2)
C0522477 (UMLS CUI [1,1])
CL Item
Not ascertained (3)
C1882118 (UMLS CUI [1,1])
Item
Asthma - Phenotype Status of Subject
text
C0004096 (UMLS CUI [1,1])
C0031437 (UMLS CUI [1,2])
Asthma_Phenotype
Code List
Asthma - Phenotype Status of Subject
CL Item
Affected (1)
C3274647 (UMLS CUI [1,1])
CL Item
Not affected (2)
C0522477 (UMLS CUI [1,1])
CL Item
Not ascertained (3)
C1882118 (UMLS CUI [1,1])
Item
Dementia - Phenotype Status of Subject
text
C0497327 (UMLS CUI [1,1])
C0031437 (UMLS CUI [1,2])
Dementia_Phenotype
Code List
Dementia - Phenotype Status of Subject
CL Item
Affected (1)
C3274647 (UMLS CUI [1,1])
CL Item
Not affected (2)
C0522477 (UMLS CUI [1,1])
CL Item
Not ascertained (3)
C1882118 (UMLS CUI [1,1])
Item
ADHD - Phenotype Status of Subject
text
C1263846 (UMLS CUI [1,1])
C0031437 (UMLS CUI [1,2])
ADHD_Phenotype
Code List
ADHD - Phenotype Status of Subject
CL Item
Affected (1)
C3274647 (UMLS CUI [1,1])
CL Item
Not affected (2)
C0522477 (UMLS CUI [1,1])
CL Item
Not ascertained (3)
C1882118 (UMLS CUI [1,1])
Item
Benign Prostatic Hyperplasia - Phenotype Status of Subject
text
C0031437 (UMLS CUI [1,1])
C1704272 (UMLS CUI [1,2])
Benign_Prostatetic_Hyperplasia_Phenotype
Code List
Benign Prostatic Hyperplasia - Phenotype Status of Subject
CL Item
Affected (1)
C3274647 (UMLS CUI [1,1])
CL Item
Not affected (2)
C0522477 (UMLS CUI [1,1])
CL Item
Not ascertained (3)
C1882118 (UMLS CUI [1,1])
Item
Hypothyroidism - Phenotype Status of Subject
text
C0020676 (UMLS CUI [1,1])
C0031437 (UMLS CUI [1,2])
Hypothyroidism_Phenotype
Code List
Hypothyroidism - Phenotype Status of Subject
CL Item
Affected (1)
C3274647 (UMLS CUI [1,1])
CL Item
Not affected (2)
C0522477 (UMLS CUI [1,1])
CL Item
Not ascertained (3)
C1882118 (UMLS CUI [1,1])
Item
Abdominal Aortic Aneurysm - Phenotype Status of Subject
text
C0162871 (UMLS CUI [1,1])
C0031437 (UMLS CUI [1,2])
Abdominal_Aortic_Aneurysm_Phenotype
Code List
Abdominal Aortic Aneurysm - Phenotype Status of Subject
CL Item
Affected (1)
C3274647 (UMLS CUI [1,1])
CL Item
Not affected (2)
C0522477 (UMLS CUI [1,1])
CL Item
Not ascertained (3)
C1882118 (UMLS CUI [1,1])
Item
Herpes Zoster - Phenotype Status of Subject
text
C0019360 (UMLS CUI [1,1])
C0031437 (UMLS CUI [1,2])
Herpes_Zoster_Phenotype
Code List
Herpes Zoster - Phenotype Status of Subject
CL Item
Affected (1)
C3274647 (UMLS CUI [1,1])
CL Item
Not affected (2)
C0522477 (UMLS CUI [1,1])
CL Item
Not ascertained (3)
C1882118 (UMLS CUI [1,1])
Item
Resistant Hypertension - Phenotype Status of Subject
text
C0020538 (UMLS CUI [1,1])
C0205269 (UMLS CUI [1,2])
C0031437 (UMLS CUI [1,3])
Resistant_Hypertension_Phenotype
Code List
Resistant Hypertension - Phenotype Status of Subject
CL Item
Affected (1)
C3274647 (UMLS CUI [1,1])
CL Item
Not affected (2)
C0522477 (UMLS CUI [1,1])
CL Item
Not ascertained (3)
C1882118 (UMLS CUI [1,1])
Item
Carotid Artery Atherosclerosis Disease - Phenotype Status of Subject
text
C0031437 (UMLS CUI [1,1])
C0577631 (UMLS CUI [1,2])
Carotid_Artery_Atherosclerosis_Disease_Phenotype
Code List
Carotid Artery Atherosclerosis Disease - Phenotype Status of Subject
CL Item
Affected (1)
C3274647 (UMLS CUI [1,1])
CL Item
Not affected (2)
C0522477 (UMLS CUI [1,1])
CL Item
Not ascertained (3)
C1882118 (UMLS CUI [1,1])
Item
Type 2 Diabetes Mellitus - Phenotype Status of Subject
text
C0031437 (UMLS CUI [1,1])
C4014362 (UMLS CUI [1,2])
Type_2_Diabetes_Mellitus_Phenotype
Code List
Type 2 Diabetes Mellitus - Phenotype Status of Subject
CL Item
Affected (1)
C3274647 (UMLS CUI [1,1])
CL Item
Not affected (2)
C0522477 (UMLS CUI [1,1])
CL Item
Not ascertained (3)
C1882118 (UMLS CUI [1,1])
Item
Chronic Kidney Disease - Phenotype Status of Subject
text
C0022661 (UMLS CUI [1,1])
C0031437 (UMLS CUI [1,2])
Chronic_Kidney_Disease_Phenotype
Code List
Chronic Kidney Disease - Phenotype Status of Subject
CL Item
Affected (1)
C3274647 (UMLS CUI [1,1])
CL Item
Not affected (2)
C0522477 (UMLS CUI [1,1])
CL Item
Not ascertained (3)
C1882118 (UMLS CUI [1,1])
Item
Clostridium Difficile - Phenotype Status of Subject
text
C0079134 (UMLS CUI [1,1])
C0031437 (UMLS CUI [1,2])
Clostridium_Difficile_Phenotype
Code List
Clostridium Difficile - Phenotype Status of Subject
CL Item
Affected (1)
C3274647 (UMLS CUI [1,1])
CL Item
Not affected (2)
C0522477 (UMLS CUI [1,1])
CL Item
Not ascertained (3)
C1882118 (UMLS CUI [1,1])
Item
Community Associated Methicillin Resistant Staphylococcus Aureus - Phenotype Status of Subject
text
C0009462 (UMLS CUI [1,1])
C1265292 (UMLS CUI [1,2])
C0031437 (UMLS CUI [1,3])
Community_Associated_Methicillin_Resistant_Staphylococcus_Aureus_Phenotype
Code List
Community Associated Methicillin Resistant Staphylococcus Aureus - Phenotype Status of Subject
CL Item
Affected (1)
C3274647 (UMLS CUI [1,1])
CL Item
Not affected (2)
C0522477 (UMLS CUI [1,1])
CL Item
Not ascertained (3)
C1882118 (UMLS CUI [1,1])
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