Statements (19)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:associatedWith |
Ehlers-Danlos syndrome
|
| gptkbp:encodes |
gptkb:collagen_alpha-2(V)_chain
|
| gptkbp:Entrez_Gene_ID |
1290
|
| gptkbp:expressedIn |
gptkb:skeletal_muscle
|
| gptkbp:function |
collagen fibril formation
|
| gptkbp:hasTranscriptVariant |
NM_000393.5
|
| gptkbp:HGNC_ID |
2215
|
| https://www.w3.org/2000/01/rdf-schema#label |
COL5A2 gene
|
| gptkbp:locatedOnChromosome |
gptkb:2q32.2
2 |
| gptkbp:mutationAssociatedWith |
gptkb:classical_Ehlers-Danlos_syndrome
|
| gptkbp:OMIM |
120190
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
gptkb:Col5a2
|
| gptkbp:product |
gptkb:collagen_type_V_alpha_2_chain
|
| gptkbp:UniProtID |
P05997
|
| gptkbp:bfsParent |
gptkb:Ehlers-Danlos_syndrome
|
| gptkbp:bfsLayer |
6
|