PR:000000242	cartilage oligomeric matrix protein sequence variant D290N (human)	cartilage oligomeric matrix protein sequence variant 2 (human)|hCOMP/var:D290N|UniProtKB:P49747-1, Asp-290, CHEBI:50347		associated_with_disease_progression	DOID:0080047	pseudoachondroplasia			UniProtKB_VAR:VAR_007614	EXP	NCBITaxon:9606		UniProtKB_VAR:VAR_007614	20080301	PRO:CNA