PRO_ID Object_term Object_syny Modifier Relation Ontology_ID Ontology_term Relative_to Interaction_with Evidence_source Evidence_code Taxon Inferred_from DB_ID Date Assigned_by Comment PR:000000237 cartilage oligomeric matrix protein sequence variant N453S (human) cartilage oligomeric matrix protein sequence variant 15 (human)|hCOMP/var:N453S|UniProtKB:P49747-1, Asn-453, CHEBI:29999 associated_with_disease_progression DOID:12721 multiple epiphyseal dysplasia UniProtKB_VAR:VAR_007630 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_007630 20080301 PRO:CNA PR:000000262 cartilage oligomeric matrix protein sequence variant D361Y (human) cartilage oligomeric matrix protein sequence variant 8 (human)|hCOMP/var:D361Y|UniProtKB:P49747-1, Asp-361, CHEBI:46858 associated_with_disease_progression DOID:12721 multiple epiphyseal dysplasia PMID:9452026 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_007620 20080301 PRO:CNA PR:000000261 cartilage oligomeric matrix protein sequence variant D361V (human) cartilage oligomeric matrix protein sequence variant 7 (human)|hCOMP/var:D361V|UniProtKB:P49747-1, Asp-361, CHEBI:30015 associated_with_disease_progression DOID:12721 multiple epiphyseal dysplasia UniProtKB_VAR:VAR_007619 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_007619 20080301 PRO:CNA PR:000000259 cartilage oligomeric matrix protein sequence variant D342Y (human) cartilage oligomeric matrix protein sequence variant 5 (human)|hCOMP/var:D342Y|UniProtKB:P49747-1, Asp-342, CHEBI:46858 associated_with_disease_progression DOID:12721 multiple epiphyseal dysplasia PMID:7670472|PMID:9452026 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_007617 20080301 PRO:CNA PR:000000247 cartilage oligomeric matrix protein sequence variant T585M (human) cartilage oligomeric matrix protein sequence variant 24 (human)|hCOMP/var:T585M|UniProtKB:P49747-1, Thr-585, CHEBI:16044 associated_with_disease_progression DOID:12721 multiple epiphyseal dysplasia PMID:11565064 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_007641 20080301 PRO:CNA PR:000000246 cartilage oligomeric matrix protein sequence variant N523K (human) cartilage oligomeric matrix protein sequence variant 23 (human)|hCOMP/var:N523K|UniProtKB:P49747-1, Asn-523, CHEBI:29967 associated_with_disease_progression DOID:12721 multiple epiphyseal dysplasia PMID:9021009 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_007640 20080301 PRO:CNA PR:000000233 cartilage oligomeric matrix protein sequence variant D408Y (human) cartilage oligomeric matrix protein sequence variant 11 (human)|hCOMP/var:D408Y|UniProtKB:P49747-1, Asp-408, CHEBI:46858 associated_with_disease_progression DOID:12721 multiple epiphyseal dysplasia PMID:9452026 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_007627 20080301 PRO:CNA PR:000000256 cartilage oligomeric matrix protein sequence variant 32 (human) hCOMP/var:32|UniProtKB:P49747-1, 21-366, 369-757 associated_with_disease_progression DOID:12721 multiple epiphyseal dysplasia UniProtKB_VAR:VAR_007621 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_007621 20080301 PRO:CNA PR:000000234 cartilage oligomeric matrix protein sequence variant D420A (human) cartilage oligomeric matrix protein sequence variant 12 (human)|hCOMP/var:D420A|UniProtKB:P49747-1, Asp-420, CHEBI:46217 associated_with_disease_progression DOID:12721 multiple epiphyseal dysplasia PMID:11565064 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_026240 20080301 PRO:CNA PR:000000248 cartilage oligomeric matrix protein sequence variant T585R (human) cartilage oligomeric matrix protein sequence variant 25 (human)|hCOMP/var:T585R|UniProtKB:P49747-1, Thr-585, CHEBI:29952 associated_with_disease_progression DOID:12721 multiple epiphyseal dysplasia UniProtKB_VAR:VAR_007642 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_007642 20080301 PRO:CNA PR:000000231 cartilage oligomeric matrix protein sequence variant P276R (human) cartilage oligomeric matrix protein sequence variant 1 (human)|hCOMP/var:P276R|UniProtKB:P49747-1, Pro-276, CHEBI:29952 associated_with_disease_progression DOID:12721 multiple epiphyseal dysplasia PMID:11565064 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_026239 20080301 PRO:CNA PR:000000263 cartilage oligomeric matrix protein sequence variant C371S (human) cartilage oligomeric matrix protein sequence variant 9 (human)|hCOMP/var:C371S|UniProtKB:P49747-1, Cys-371, CHEBI:29999 associated_with_disease_progression DOID:12721 multiple epiphyseal dysplasia PMID:9184241 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_007622 20080301 PRO:CNA PR:000036452 cartilage oligomeric matrix protein isoform 1, signal peptide removed form (human) hCOMP/iso:1/SigPep-|PRO_0000035857|UniProtKB:P49747-1, 21-757 enables GO:0005509 calcium ion binding PMID:7670472 TAS NCBITaxon:9606 UniProtKB:P49747-1 20080301 PRO:CNA PR:P49747-1 cartilage oligomeric matrix protein isoform 1 (human) hCOMP/iso:1 acts_upstream_of_or_within GO:0001501 skeletal system development PMID:7670472 IDA NCBITaxon:9606 UniProtKB:P49747-1 20080301 PRO:CNA PR:000036452 cartilage oligomeric matrix protein isoform 1, signal peptide removed form (human) hCOMP/iso:1/SigPep-|PRO_0000035857|UniProtKB:P49747-1, 21-757 enables GO:0005201 extracellular matrix structural constituent PMID:9749943 IDA NCBITaxon:9606 UniProtKB:P49747-1 20080301 PRO:CNA PR:000000243 cartilage oligomeric matrix protein sequence variant D482G (human) cartilage oligomeric matrix protein sequence variant 20 (human)|hCOMP/var:D482G|UniProtKB:P49747-1, Asp-482, CHEBI:29947 associated_with_disease_progression DOID:0080047 pseudoachondroplasia PMID:9452063 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_007637 20080301 PRO:CNA PR:000000253 cartilage oligomeric matrix protein sequence variant G299R (human) cartilage oligomeric matrix protein sequence variant 3 (human)|hCOMP/var:G299R|UniProtKB:P49747-1, Gly-299, CHEBI:29952 associated_with_disease_progression DOID:0080047 pseudoachondroplasia UniProtKB_VAR:VAR_007615 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_007615 20080301 PRO:CNA PR:000000250 cartilage oligomeric matrix protein sequence variant D372del (human) cartilage oligomeric matrix protein sequence variant 27 (human)|hCOMP/var:D372del|UniProtKB:P49747-1, 21-371, 373-757 associated_with_disease_progression DOID:0080047 pseudoachondroplasia UniProtKB_VAR:VAR_007623 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_007623 20080301 PRO:CNA PR:000000240 cartilage oligomeric matrix protein sequence variant D472Y (human) cartilage oligomeric matrix protein sequence variant 18 (human)|hCOMP/var:D472Y|UniProtKB:P49747-1, Asp-472, CHEBI:46858 associated_with_disease_progression DOID:0080047 pseudoachondroplasia PMID:7670471|PMID:9452026 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_007634 20080301 PRO:CNA PR:000000251 cartilage oligomeric matrix protein sequence variant D374del (human) cartilage oligomeric matrix protein sequence variant 28 (human)|hCOMP/var:D374del|UniProtKB:P49747-1, 21-373, 375-757 associated_with_disease_progression DOID:0080047 pseudoachondroplasia UniProtKB_VAR:VAR_007624 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_007624 20080301 PRO:CNA PR:000000254 cartilage oligomeric matrix protein sequence variant D469del (human) cartilage oligomeric matrix protein sequence variant 30 (human)|hCOMP/var:D469del|UniProtKB:P49747-1, 21-468, 470-757 associated_with_disease_progression DOID:0080047 pseudoachondroplasia UniProtKB_VAR:VAR_007633 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_007633 20080301 PRO:CNA PR:000000238 cartilage oligomeric matrix protein sequence variant D439V (human) cartilage oligomeric matrix protein sequence variant 16 (human)|hCOMP/var:D439V|UniProtKB:P49747-1, Asp-439, CHEBI:30015 associated_with_disease_progression DOID:0080047 pseudoachondroplasia UniProtKB_VAR:VAR_007618 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_007618 20080301 PRO:CNA PR:000000235 cartilage oligomeric matrix protein sequence variant G440E (human) cartilage oligomeric matrix protein sequence variant 13 (human)|hCOMP/var:G440E|UniProtKB:P49747-1, Gly-440, CHEBI:29972 associated_with_disease_progression DOID:0080047 pseudoachondroplasia UniProtKB_VAR:VAR_007628 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_007628 20080301 PRO:CNA PR:000000258 cartilage oligomeric matrix protein sequence variant C328R (human) cartilage oligomeric matrix protein sequence variant 4 (human)|hCOMP/var:C328R|UniProtKB:P49747-1, Cys-328, CHEBI:29952 associated_with_disease_progression DOID:0080047 pseudoachondroplasia UniProtKB_VAR:VAR_007616 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_007616 20080301 PRO:CNA PR:000000252 cartilage oligomeric matrix protein sequence variant S459del (human) cartilage oligomeric matrix protein sequence variant 29 (human)|hCOMP/var:S459del|UniProtKB:P49747-1, 21-458, 460-757 associated_with_disease_progression DOID:0080047 pseudoachondroplasia UniProtKB_VAR:VAR_007631 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_007631 20080301 PRO:CNA PR:000000236 cartilage oligomeric matrix protein sequence variant G440R (human) cartilage oligomeric matrix protein sequence variant 14 (human)|hCOMP/var:G440R|UniProtKB:P49747-1, Gly-440, CHEBI:29952 associated_with_disease_progression DOID:0080047 pseudoachondroplasia PMID:9452026 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_007629 20080301 PRO:CNA PR:000000241 cartilage oligomeric matrix protein sequence variant D473G (human) cartilage oligomeric matrix protein sequence variant 19 (human)|hCOMP/var:D473G|UniProtKB:P49747-1, Asp-473, CHEBI:29947 associated_with_disease_progression DOID:0080047 pseudoachondroplasia UniProtKB_VAR:VAR_007635 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_007635 20080301 PRO:CNA 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 PR:000000260 cartilage oligomeric matrix protein sequence variant C348R (human) cartilage oligomeric matrix protein sequence variant 6 (human)|hCOMP/var:C348R|UniProtKB:P49747-1, Cys-348, CHEBI:29952 associated_with_disease_progression DOID:0080047 pseudoachondroplasia PMID:11746045 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_017102 20080301 PRO:CNA PR:000000257 cartilage oligomeric matrix protein sequence variant 33 (human) hCOMP/var:33|UniProtKB:P49747-1, 21-512, 517-757 associated_with_disease_progression DOID:0080047 pseudoachondroplasia UniProtKB_VAR:VAR_007638 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_007638 20080301 PRO:CNA PR:000000245 cartilage oligomeric matrix protein sequence variant G719D (human) cartilage oligomeric matrix protein sequence variant 22 (human)|hCOMP/var:G719D|UniProtKB:P49747-1, Gly-719, CHEBI:29958 associated_with_disease_progression DOID:0080047 pseudoachondroplasia PMID:11746044 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_017103 20080301 PRO:CNA PR:000000249 cartilage oligomeric matrix protein sequence variant 26 (human) hCOMP/var:26 associated_with_disease_progression DOID:0080047 pseudoachondroplasia UniProtKB_VAR:VAR_007626 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_007626 20080301 PRO:CNA PR:000000247 cartilage oligomeric matrix protein sequence variant T585M (human) cartilage oligomeric matrix protein sequence variant 24 (human)|hCOMP/var:T585M|UniProtKB:P49747-1, Thr-585, CHEBI:16044 associated_with_disease_progression DOID:0080047 pseudoachondroplasia PMID:11565064 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_007641 20080301 PRO:CNA PR:000000239 cartilage oligomeric matrix protein sequence variant C468Y (human) cartilage oligomeric matrix protein sequence variant 17 (human)|hCOMP/var:C468Y|UniProtKB:P49747-1, Cys-468, CHEBI:46858 associated_with_disease_progression DOID:0080047 pseudoachondroplasia PMID:7670471|PMID:9452026 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_007632 20080301 PRO:CNA PR:000000232 cartilage oligomeric matrix protein sequence variant C387G (human) cartilage oligomeric matrix protein sequence variant 10 (human)|hCOMP/var:C387G|UniProtKB:P49747-1, Cys-387, CHEBI:29947 associated_with_disease_progression DOID:0080047 pseudoachondroplasia UniProtKB_VAR:VAR_007625 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_007625 20080301 PRO:CNA PR:000000244 cartilage oligomeric matrix protein sequence variant D518N (human) cartilage oligomeric matrix protein sequence variant 21 (human)|hCOMP/var:D518N|UniProtKB:P49747-1, Asp-518, CHEBI:50347 associated_with_disease_progression DOID:0080047 pseudoachondroplasia UniProtKB_VAR:VAR_007639 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_007639 20080301 PRO:CNA PR:000000255 cartilage oligomeric matrix protein sequence variant D473del (human) cartilage oligomeric matrix protein sequence variant 31 (human)|hCOMP/var:D473del|UniProtKB:P49747-1, 21-472, 474-757 associated_with_disease_progression DOID:0080047 pseudoachondroplasia UniProtKB_VAR:VAR_007636 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_007636 20080301 PRO:CNA PR:000036452 cartilage oligomeric matrix protein isoform 1, signal peptide removed form (human) hCOMP/iso:1/SigPep-|PRO_0000035857|UniProtKB:P49747-1, 21-757 located_in GO:0031012 extracellular matrix PMID:9749943 IDA NCBITaxon:9606 UniProtKB:P49747-1 20080301 PRO:CNA PR:000036452 cartilage oligomeric matrix protein isoform 1, signal peptide removed form (human) hCOMP/iso:1/SigPep-|PRO_0000035857|UniProtKB:P49747-1, 21-757 acts_upstream_of_or_within GO:0009887 animal organ morphogenesis PMID:7713493 TAS NCBITaxon:9606 UniProtKB:P49747-1 20080301 PRO:CNA PR:P49747-1 cartilage oligomeric matrix protein isoform 1 (human) hCOMP/iso:1 acts_upstream_of_or_within GO:0009887 animal organ morphogenesis PMID:7713493 IDA NCBITaxon:9606 UniProtKB:P49747-1 20080301 PRO:CNA