EDM1-PSACH_COMP
- Gene
- COMP
- Disease
- EDM1-PSACH
- Inheritance
- AD
- Classification
- Definitive
- Total Score
- 16.7
- Publications Reviewed
- 17
- Publication Span
- 26 years
- Last Updated
- 02/28/2025
- Curator(s)
- Skeletal Disorders GCEP
Description
Disease: COMP-related skeletal dysplasia https://search.clinicalgenome.org/CCID:008836
Genetic evidence
Total: 10.7
No genetic evidence details available.
Experimental evidence
Total: 6
No experimental evidence details available.
Note: Maximum score caps apply at evidence type, category, and supercategory levels, so section totals may be lower than the raw sum of row scores.