Statements (20)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
LMNB1
|
| gptkbp:associatedWith |
autosomal dominant leukodystrophy
|
| gptkbp:chromosomeArm |
5q23.2
|
| gptkbp:encodes |
lamin B1
|
| gptkbp:Entrez_Gene_ID |
4001
ENSG00000160789 |
| gptkbp:expressedIn |
gptkb:nucleus
|
| gptkbp:function |
structural component of nuclear lamina
|
| gptkbp:HGNC_ID |
6637
|
| https://www.w3.org/2000/01/rdf-schema#label |
LMN1
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_5
|
| gptkbp:mutationAssociatedWith |
adult-onset autosomal dominant leukodystrophy
|
| gptkbp:OMIM |
150340
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
Lmnb1
|
| gptkbp:product |
lamin B1
|
| gptkbp:UniProtID |
P20700
|
| gptkbp:bfsParent |
gptkb:LMNA
|
| gptkbp:bfsLayer |
8
|