Name Steward Organization Suggested Domain Suggested Domain Description Cde Group Classification
Gene point mutation location exon text 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 Datatype text max length

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

Text 255

# Definition

UUID: 198406ed-1fd8-585f-9dee-15802ea2b4a1

Text about point mutation at the exon

# Designation

UUID: e88cac2b-4328-5e38-b6fa-e64072756732

Gene point mutation location exon text

# Identifier Origin Version

UUID: 2754c60b-21dc-5022-ac60-498f0ad54aeb

HZPAp3HUqOH NLM CDEs 12-02-2025-download

UUID: 6fa21c84-eb80-5284-83ab-6e1bcb0aec75

C17889 NINDS 3

UUID: 35b6645b-41e5-558d-b49b-a4dc27ff2718

GenePointMutLocExonTxt BRICS Variable Name N/A