collagen type I alpha-2 chain gene
GPTKB entity
Statements (15)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:associatedWith |
gptkb:Osteogenesis_Imperfecta
Ehlers-Danlos syndrome |
| gptkbp:encodes |
collagen type I alpha-2 chain protein
|
| gptkbp:Entrez_Gene_ID |
gptkb:ENSG00000157554
1278 |
| gptkbp:function |
collagen biosynthesis
|
| https://www.w3.org/2000/01/rdf-schema#label |
collagen type I alpha-2 chain gene
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_7
|
| gptkbp:mutationAssociatedWith |
connective tissue disorders
|
| gptkbp:OMIM |
120160
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:symbol |
gptkb:COL1A2
|
| gptkbp:bfsParent |
gptkb:COL1A2_gene
|
| gptkbp:bfsLayer |
7
|