SBMA_AR
- Gene
- AR
- Disease
- SBMA
- Inheritance
- AR
- Classification
- Definitive
- Total Score
- 13.5
- Publications Reviewed
- 11
- Publication Span
- 32 years
- Last Updated
- 08/08/2023
- Curator(s)
- Amyotrophic Lateral Sclerosis Spectrum Disorders GCEP
Description
Curated as Kennedy disease (MONDO:0010735) and Spinal and bulbar muscular atrophy, X-linked 1 (MIM:313200) was an included phenotype https://search.clinicalgenome.org/CCID:004161
Genetic evidence
Total: 7.5
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.