Statements (18)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:gene
|
gptkbp:associatedWith |
muscular dystrophy
|
gptkbp:encodes |
gptkb:collagen_alpha-1(VI)_chain
|
gptkbp:Entrez_Gene_ID |
12808
ENSMUSG00000021751 |
gptkbp:expressedIn |
gptkb:skeletal_muscle
|
gptkbp:function |
extracellular matrix structural constituent
|
gptkbp:gene |
gptkb:Col6a1
|
https://www.w3.org/2000/01/rdf-schema#label |
Col6a1
|
gptkbp:locatedOnChromosome |
mouse chromosome 10
|
gptkbp:mutationAssociatedWith |
muscle weakness
fibrosis |
gptkbp:organism |
gptkb:Mus_musculus
|
gptkbp:orthologIn |
COL6A1 (human)
|
gptkbp:product |
collagen VI
|
gptkbp:UniProtID |
P12109
|
gptkbp:bfsParent |
gptkb:COL6A1
|
gptkbp:bfsLayer |
7
|