Statements (13)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:DNA
|
| gptkbp:associated_with |
gptkb:Bethlem_myopathy
gptkb:Ullrich_congenital_muscular_dystrophy |
| gptkbp:code |
gptkb:collagen_type_VI_alpha_1_chain
|
| gptkbp:discovered_by |
genetic research
|
| gptkbp:function |
structural component of extracellular matrix
|
| gptkbp:genetic_studies |
causes various muscular dystrophies
|
| https://www.w3.org/2000/01/rdf-schema#label |
COL6 A1
|
| gptkbp:is_expressed_in |
muscle tissue
|
| gptkbp:located_in |
gptkb:human_chromosome_21
|
| gptkbp:related_to |
collagen family
|
| gptkbp:bfsParent |
gptkb:muscular_dystrophy
|
| gptkbp:bfsLayer |
5
|