Collaboration Phenotypes

Primary tabs

Contact authors listed below are open to engaging others in the development of their phenotypes. Unless the status of the phenotype is marked as final, these phenotypes cannot be viewed in-depth until the author has shared access with you and you have logged into PheKB. Click on an author's name to send an email to him or her expressing your interest in collaborating.

Title Institution Phenotype Attributes Description Status Contact Author Type of Phenotype
(Arrhythmias) EKG Intervals, Phenotype/Genotype correlations VUMC CPT Codes, ICD 10 Codes, ICD 9 Codes, Laboratories, Medications, Natural Language Processing, Vital Signs Genetic testing for rare variants associated with inherited arrhythmia syndromes (i.e. Long QT Syndrome, Brugada Syndrome, etc.) is becoming increasingly common in clinical practice, as is the incidental detection of these variants during research or commercial sequencing. Testing Davogustto, Giovanni Ernesto Disease or Syndrome, Other Trait
Asparaginase-induced acute pancreatitis Vanderbilt University Medical Center This algorithm selects patients in the Synthetic Derivative, Vanderbilt's de-identified electronic health record database, who have had pegaspargase-induced or L-asparaginase-induced acute pancreatitis. In development Lincoln Shade Disease or Syndrome, Drug Response - adverse effect or efficacy
Aspirin-Exacerbated Respiratory Disease Brigham and Women's Hospital CPT Codes, ICD 10 Codes, ICD 9 Codes, Medications BACKGROUND: Aspirin-exacerbated respiratory disease (AERD) is characterized by 3 clinical features: asthma, nasal polyposis, and respiratory reactions to cyclooxygenase-1 inhibitors (nonsteroidal anti-inflammatory drugs). Electronic health records (EHRs) contain information on each feature of this triad. In development Katherine Cahill Disease or Syndrome
Bactrim-induced Stevens-Johnson syndrome/toxic epidermal necrolysis (BI-SJS/TEN) Vanderbilt University Medical Center CPT Codes, ICD 10 Codes, ICD 9 Codes, Medications, Natural Language Processing This algorithm selects patients in the Synthetic Derivative, Vanderbilt's de-identified electronic health record database, who have had Bactrim-induced Stevens-Johnson syndrome/toxic epidermal necrolysis. In development Lincoln Shade Disease or Syndrome, Drug Response - adverse effect or efficacy
Benign Prostatic Hyperplasia (BPH) Vanderbilt University Medical Center CPT Codes, ICD 9 Codes, Laboratories, Medications, Natural Language Processing Validated Sarah Stallings Disease or Syndrome
Bipolar (BD) MGB Biobank Mass General Brigham ICD 10 Codes, ICD 9 Codes, Medications Algorithm to identify bipolar disorder developed at MGB and tested at VUMC and Geisinger.    Testing Vivian Gainer Disease or Syndrome
Body Mass Index (BMI) CHOP CPT Codes, ICD 10 Codes, ICD 9 Codes, Medications eMERGE-IV BMI Algorithm adapted from Geisinger Extreme Obesity Algorithm (2013). BMI is being implemented as a quantitative trait. PheKB maintains a catalog of the Geisinger Extreme Obesity algorithm, on which this is based (Phenotpe 121). This algorithm is for analysis. Sites only contributing covariates can simply compile the designated data. Final John Connolly
bone scan utilization Stanford University School of Medicine CPT Codes, ICD 10 Codes, ICD 9 Codes, Natural Language Processing Objective Final Tina Hernandez-Boussard Other Trait
Breast Cancer CPT Codes, ICD 10 Codes, ICD 9 Codes, Laboratories, Medications, Natural Language Processing Breast cancer is the most common cancer and the second leading cause of cancer-related death among women in the U.S. Known breast cancer risk factors include age, race/ethnicity, reproductive factors, and benign breast disease. Family history of breast cancer and hereditary cancer syndromes, such as BRCA1/BRCA2 mutations, confer the strongest risk for this disease. Final Ning Sunny Shang Disease or Syndrome
Chronic Kidney Disease Columbia University, Mayo Clinic, VUMC CPT Codes, ICD 9 Codes, Laboratories Chronic kidney disease (CKD) is defined as an abnormality of kidney structure or function present for longer than 3 months. CKD can occur as a result of heterogeneous disorders affecting the kidney. In the United States, an estimated 13.6% of adults have CKD. Notably, adjusted mortality rates are higher for patients with CKD than those without, and rates increase with CKD stage. Final Ning Sunny Shang Disease or Syndrome
Chronic pain cohort ICD 9 Codes, Medications Primary care patients who have a diagnostic indication of chronic non-malignant pain for which they are on long-term opioid therapy Validated Reesa Laws Disease or Syndrome
Colorectal Cancer (CRC) Group Health/UW CPT Codes, ICD 9 Codes, Laboratories, Medications, Natural Language Processing, Vital Signs A pheontype defining patients with strong evidence of having been diagnosed with colorectal cancer (cases) and patients who clearly do not have such diagnoses (controls).  This phenotype is being used for sequencing studies. The only NLP involved in this phenotype is a very simple string search applied to pathology reports. Final David Carrell Disease or Syndrome
Consistent Care Harvard University CPT Codes, ICD 10 Codes, ICD 9 Codes Final Elizabeth Wood Karlson Other Trait
Depression KPWA/UW CPT Codes, ICD 10 Codes, ICD 9 Codes, Medications Depression accounts for substantial morbidity and mortality worldwide and risk of experiencing it may have a genetic component.  Depressive disorders manifest along a gradient from mild to severe.[1]  Electronic health record (EHR) data linked to large, multi-site biobanks[2] facilitate exploration of the genetic component of depression. Final David Carrell Disease or Syndrome
Diverticular Disease Severity, Colonic Vanderbilt University Medical Center CPT Codes, ICD 10 Codes, ICD 9 Codes This algorithm builds off prior phenotyping work from Pacheco & Thompson available in the PheKB phenotype "Diverticulosis and Diverticulitis" as well as the manuscripts from Joo et al (2023)(1) and De Roo et al (2023) (2) . Final Thomas Ueland Disease or Syndrome

Pages