2014-06-30T12:14:58-07:00
Resource:Clinical Genomic Database
CGD
National Institutes of Health/National Human Genome Research Institute
Building 35
Room 1B-207
Bethesda
MD 20892 Phone: 301-451-7414 Fax: 301-496-7184
curated
http://research.nhgri.nih.gov/CGD/
A manually curated database of all conditions with known genetic causes, focusing on medically significant genetic data with available interventions. For each entry, the database includes the gene symbol, condition(s), allelic conditions, inheritance, age (pediatric or adult) in which interventions are indicated, clinical categorization, and a general description of interventions/rationale. The contents are not intended to serve as nor substitute for comprehensive clinical guidelines, but are rather intended to briefly describe the types of interventions that might be considered.
The database includes only single gene alterations (it does not include contiguous gene syndromes, although some conditions with, for example, digenic inheritance are included), and does not include genetic associations or susceptibility factors related to more complex diseases, such as identified through association-based studies. Somatic alterations, such as commonly occur in cancerous processes, are not included unless a germline change in the same gene results in disease.
One goal of this project is to solicit input and feedback from other clinicians and researchers. Please contact them with your input.
nlx_152872
Resource:Clinical Genomic Database
2014-06-23T00:00:00
23696674
Resource
Resource
Supporting Agency
SuperCategory
Human
Species
Resource:Monarch Initiative
RelatedTo
PMID
ModifiedDate
Label
Pathogenic mutation
Genetic variant
Age group
Inheritance
Manifestation
Clinical categorization
Allelic condition
Condition
Gene symbol
Intervention
Organ system
Gene
Whole-genome sequencing
Genomic medicine
Young human
Adult human
Pediatric
Clinical
Genome
Genomic sequencing
Keywords
National Human Genome Research Institute
Is part of
Id
Database
Has role
File:Clinical Genomic Database.PNG
ExampleImage
Definition
DefiningCitation
CurationStatus
Acknowledgement requested
Public domain
Availability
Address
Abbrev