Name Steward Organization Suggested Domain Suggested Domain Description Cde Group Classification
Gene targeted mutational analysis type NINDS Biomarkers, genetics, and genomics
Biomarkers, genetics, and genomics relevant to AD/ADRD
 NIH CDEs
  • ▼ NINDS
    • ▼ Disease
      • ▼ Cerebral Palsy
        • ▼ Classification
          • Supplemental
        • ▼ Domain
          • ▼ Assessments and Examinations
            • Laboratory Tests and Biospecimens/Biomarkers
      • ▼ Duchenne/Becker Muscular Dystrophy
        • ▼ Classification
          • Supplemental
        • ▼ Domain
          • ▼ Assessments and Examinations
            • Laboratory Tests and Biospecimens/Biomarkers
      • ▼ Facioscapulohumeral muscular dystrophy (FSHD)
        • ▼ Classification
          • Supplemental
        • ▼ Domain
          • ▼ Assessments and Examinations
            • Laboratory Tests and Biospecimens/Biomarkers
      • ▼ Myasthenia Gravis
        • ▼ Classification
          • Supplemental
        • ▼ Domain
          • ▼ Assessments and Examinations
            • Laboratory Tests and Biospecimens/Biomarkers
      • ▼ Spinal Muscular Atrophy
        • ▼ Classification
          • Supplemental
        • ▼ Domain
          • ▼ Assessments and Examinations
            • Laboratory Tests and Biospecimens/Biomarkers
    • ▼ Domain
      • ▼ Assessments and Examinations
        • Laboratory Tests and Biospecimens/Biomarkers
    • ▼ Population
      • Adult
      • Pediatric

# Datatype

UUID: af6e6124-45a0-5a17-82a9-4b27f20481ce

Value List

# Permissible value Value meaning name Value meaning definition

UUID: eff2d1fb-fa6a-5535-af9f-163fa676d2b3

Hot-spot Hot-spot Hot-spot

UUID: 508a3f5f-f872-5bf5-aaf0-4ecf2f90f4f7

Known familial mutation Known familial mutation Known familial mutation

UUID: ab598550-77a6-57ba-8c72-553513513d24

Other, specify Other, specify Other, specify

# Definition

UUID: 3b12b8c4-8812-5917-beaf-f1790886ab74

Type of targeted mutational analysis performed for the gene

# Designation

UUID: 2ab5564b-c79b-591c-89ae-b4c0b637f1f7

Gene targeted mutational analysis type

# Identifier Origin Version

UUID: f4e8fd7d-1a87-523c-b90f-ff95c673ffa1

GeneTarMutAnlysisTyp BRICS Variable Name N/A

UUID: c0ee82d8-a863-520a-a98f-dc788578efdb

sagOjZOeZZX NLM CDEs 12-02-2025-download

UUID: 7f6b90e2-0c49-572c-a4b6-cb9ed23edd44

C12797 NINDS 3