COL9A1

URI: https://gptkb.org/entity/COL9A1

GPTKB entity

Predicate	Object
gptkbp:instanceOf	gptkb:gene
gptkbp:alternativeName	gptkb:collagen_type_IX_alpha_1_chain
gptkbp:associatedWith	gptkb:multiple_epiphyseal_dysplasia
gptkbp:encodes	gptkb:collagen_alpha-1(IX)_chain
gptkbp:Entrez_Gene_ID	1297
gptkbp:expressedIn	gptkb:collagen
gptkbp:function	structural component of cartilage extracellular matrix
gptkbp:HGNC_ID	HGNC:2202
gptkbp:locatedOnChromosome	gptkb:chromosome_6
gptkbp:mutationAssociatedWith	gptkb:Stickler_syndrome
gptkbp:OMIM	120210
gptkbp:species	gptkb:Homo_sapiens
gptkbp:UniProtID	gptkb:P20849
gptkbp:bfsParent	gptkb:EGR1
gptkbp:bfsLayer	6
https://www.w3.org/2000/01/rdf-schema#label	COL9A1