Statements (25)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:associatedWith |
muscular dystrophy
Poretti-Boltshauser syndrome |
| gptkbp:component |
laminin-1 complex
|
| gptkbp:encodes |
laminin subunit alpha-1
|
| gptkbp:Entrez_Gene_ID |
284217
ENSG00000196569 |
| gptkbp:expressedIn |
basement membrane
|
| gptkbp:function |
cell differentiation
cell adhesion tissue maintenance |
| gptkbp:HGNC_ID |
6483
|
| https://www.w3.org/2000/01/rdf-schema#label |
LAMA1
|
| gptkbp:locatedOnChromosome |
gptkb:18p11.31
|
| gptkbp:mutationAssociatedWith |
ocular abnormalities
cerebellar dysplasia cystic kidney disease |
| gptkbp:OMIM |
150320
|
| gptkbp:orthologInMouse |
Lama1
|
| gptkbp:product |
laminin alpha-1 chain
|
| gptkbp:UniProtID |
Q16363
|
| gptkbp:bfsParent |
gptkb:Laminin_alpha_chain
gptkb:LAMA5 gptkb:laminin |
| gptkbp:bfsLayer |
7
|