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Clinical Genomic Database

Manually curated database of all conditions with known genetic causes, focusing on medically significant genetic data with available interventions. Includes gene symbol, conditions, allelic conditions, inheritance, age in which interventions are indicated, clinical categorization, and general description of interventions/rationale. Contents are intended to describe types of interventions that might be considered. Includes only single gene alterations and does not include genetic associations or susceptibility factors related to more complex diseases.


Details

  • Resource Type: Resource, data or information resource, database
  • Keywords: genomic sequencing, genome, clinical, pediatric, adult human, young human, genomic medicine, whole-genome sequencing, gene, organ system, intervention, gene symbol, condition, allelic condition, clinical categorization, manifestation, inheritance, age group, genetic variant, pathogenic mutation
  • Resource ID: SCR_006427
  • Proper Citation: (Clinical Genomic Database, RRID:SCR_006427)
  • Parent Organization: National Human Genome Research Institute
  • Related Condition:
  • Funding Agency: NHGRI
  • Relation: used by: Monarch Initiative, NIF Data Federation
  • Reference: PMID:23696674
  • Website Status: Last checked up
  • Alternate IDs: nlx_152872
  • Alternate URLs:
  • Old URLs:
  • v_uuid: 7069e41b-21c7-534a-a36a-dfb963074993
License URL:
License Information: