|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
STL2
fibrochondrogenesis 1
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:Stickler_syndrome
gptkb:Marshall_syndrome
gptkb:fibrochondrogenesis
osteoarthritis
|
|
gptkbp:clinicalTrialPhase
|
genetic testing for Stickler syndrome
|
|
gptkbp:discoveredBy
|
genetic mapping and sequencing studies
|
|
gptkbp:encodes
|
gptkb:collagen_alpha-1(XI)_chain
|
|
gptkbp:Entrez_Gene_ID
|
1301
|
|
gptkbp:expressedIn
|
collagen
|
|
gptkbp:fullName
|
gptkb:collagen_type_XI_alpha_1_chain
|
|
gptkbp:function
|
component of type XI collagen, important for cartilage structure
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
HGNC:2202
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
COL11A1 gene
|
|
gptkbp:locatedOnChromosome
|
chromosome 1
1p21
|
|
gptkbp:mutationAssociatedWith
|
skeletal dysplasia
|
|
gptkbp:OMIM
|
120280
|
|
gptkbp:orthologInMouse
|
Col11a1
|
|
gptkbp:pathway
|
extracellular matrix organization
collagen biosynthesis and modifying enzymes
|
|
gptkbp:proteinFamily
|
fibrillar collagen family
|
|
gptkbp:UniProtID
|
P12107
|
|
gptkbp:bfsParent
|
gptkb:Stickler_syndrome
|
|
gptkbp:bfsLayer
|
7
|