Statements (13)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:gene
|
gptkbp:alsoKnownAs |
gptkb:SMN1
|
gptkbp:associatedWith |
spinal muscular atrophy
|
gptkbp:discoveredIn |
1995
|
gptkbp:encodes |
gptkb:SMN_protein
|
gptkbp:HGNC_ID |
11100
|
https://www.w3.org/2000/01/rdf-schema#label |
SMA1
|
gptkbp:locatedOn |
chromosome 5q13
|
gptkbp:mutationAssociatedWith |
gptkb:spinal_muscular_atrophy_type_1
|
gptkbp:OMIM |
600354
|
gptkbp:orthologIn |
mouse Smn1
|
gptkbp:bfsParent |
gptkb:SMN1
|
gptkbp:bfsLayer |
6
|