COL9A1

URI: https://gptkb.org/entity/COL9A1
GPTKB entity
Statements (16)
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