Name Steward Organization Suggested Domain Suggested Domain Description Cde Group Classification
Gene mRNA mutation name 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
      • ▼ Myotonic Dystrophy
        • ▼ 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 Datatype text max length

UUID: e7782637-5789-528f-ad9b-3e804d6713e9

Text 255

# Definition

UUID: f34990fc-098a-55c5-8ddb-5f89d5694795

The Human Genome Organisation (HUGO) mutation nomenclature of the messenger ribonucleic acid (mRNA) mutation

# Designation

UUID: 12d416c7-79d2-5d18-8ad2-0879e63be272

Gene mRNA mutation name

# Identifier Origin Version

UUID: 1c457f18-b2d7-5654-9bfd-701c6412ae52

GeneMRNAMutName BRICS Variable Name N/A

UUID: e59a1e0e-97f9-5ecd-9226-5a1048046cbd

C12805 NINDS 3

UUID: 9eb2cf82-21b4-56f0-8a47-3f1d07f4cea2

U5ZWnr0dGrU NLM CDEs 12-02-2025-download