Statements (19)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
gptkb:matrilin_3
|
| gptkbp:associatedWith |
gptkb:spondyloepimetaphyseal_dysplasia
gptkb:multiple_epiphyseal_dysplasia |
| gptkbp:encodes |
gptkb:matrilin-3_protein
|
| gptkbp:Entrez_Gene_ID |
4149
|
| gptkbp:expressedIn |
collagen
|
| gptkbp:function |
extracellular matrix organization
|
| https://www.w3.org/2000/01/rdf-schema#label |
MATN3 gene
|
| gptkbp:locatedOnChromosome |
chromosome 2
2p24-p23 |
| gptkbp:mutationAssociatedWith |
skeletal dysplasia
|
| gptkbp:OMIM |
607078
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:proteinFamily |
gptkb:matrilin_family
|
| gptkbp:UniProtID |
Q16602
|
| gptkbp:bfsParent |
gptkb:Fairbanks_disease
gptkb:Fairbank_disease |
| gptkbp:bfsLayer |
7
|