Statements (29)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alias |
BMP-14
CDMP1 LAP4 |
| gptkbp:associatedWith |
gptkb:brachydactyly_type_C
multiple synostoses syndrome acromesomelic dysplasia |
| gptkbp:encodes |
GDF5 protein
|
| gptkbp:Entrez_Gene_ID |
8200
|
| gptkbp:expressedIn |
collagen
developing joints |
| gptkbp:fullName |
Growth Differentiation Factor 5
|
| gptkbp:function |
regulation of bone and cartilage development
|
| gptkbp:HGNC_ID |
4222
|
| https://www.w3.org/2000/01/rdf-schema#label |
GDF5
|
| gptkbp:locatedOnChromosome |
20q11.22
chromosome 20 |
| gptkbp:memberOf |
gptkb:TGF-beta_superfamily
|
| gptkbp:mutationAssociatedWith |
skeletal malformations
|
| gptkbp:OMIM |
601146
|
| gptkbp:orthologInMouse |
Gdf5
|
| gptkbp:species |
gptkb:Homo_sapiens
|
| gptkbp:UniProtID |
P43026
|
| gptkbp:bfsParent |
gptkb:20q11.2
gptkb:Sox5 gptkb:TGF-beta_signaling_superfamily gptkb:20q11.21 gptkb:Transforming_Growth_Factor_superfamily |
| gptkbp:bfsLayer |
8
|