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:000000281 growth/differentiation factor 5 BMP-14|BMP14|bone morphogenetic protein 14|Bp|cartilage-derived morphogenetic protein 1|CDMP-1|CDMP1|GDF-5|GDF5|radotermin acts_upstream_of_or_within GO:0030326 embryonic limb morphogenesis PANTHER:PTHR11848:SF44 ISS PANTHER:PTHR11848:SF44 PANTHER:PTHR11848:SF44|UniProtKB:P43026|UniProtKB:P43027 20080301 PRO:CNA PR:000000437 growth/differentiation factor 5 sequence variant C400Y (human) growth/differentiation factor 5 sequence variant 1 (human)|hGDF5/var:C400Y|UniProtKB:P43026, Cys-400, CHEBI:46858 NOT enables GO:0008083 growth factor activity PMID:9288098 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_017407 20080301 PRO:CNA PR:000000437 growth/differentiation factor 5 sequence variant C400Y (human) growth/differentiation factor 5 sequence variant 1 (human)|hGDF5/var:C400Y|UniProtKB:P43026, Cys-400, CHEBI:46858 located_in GO:0005622 intracellular anatomical structure PMID:9288098 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_017407 20080301 PRO:CNA PR:000000437 growth/differentiation factor 5 sequence variant C400Y (human) growth/differentiation factor 5 sequence variant 1 (human)|hGDF5/var:C400Y|UniProtKB:P43026, Cys-400, CHEBI:46858 associated_with_disease_progression DOID:0080052 acromesomelic dysplasia, Grebe type UniProtKB_VAR:VAR_017407 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_017407 20080301 PRO:CNA PR:000000437 growth/differentiation factor 5 sequence variant C400Y (human) growth/differentiation factor 5 sequence variant 1 (human)|hGDF5/var:C400Y|UniProtKB:P43026, Cys-400, CHEBI:46858 enables GO:0005515 protein binding PR:000000164 PMID:9288098 IPI NCBITaxon:9606 UniProtKB_VAR:VAR_017407 20080301 PRO:CNA PR:000000438 growth/differentiation factor 5 sequence variant R438L (human) growth/differentiation factor 5 sequence variant 2 (human)|hGDF5/var:R438L|UniProtKB:P43026, Arg-438, CHEBI:30006 located_in GO:0005615 extracellular space PMID:16532400 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_026545 20080301 PRO:CNA PR:000000438 growth/differentiation factor 5 sequence variant R438L (human) growth/differentiation factor 5 sequence variant 2 (human)|hGDF5/var:R438L|UniProtKB:P43026, Arg-438, CHEBI:30006 associated_with_disease_progression DOID:0050794 multiple synostoses syndrome PMID:16532400 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_026545 20080301 PRO:CNA PR:000000439 growth/differentiation factor 5 sequence variant L441P (human) growth/differentiation factor 5 sequence variant 3 (human)|hGDF5/var:L441P|UniProtKB:P43026, Leu-441, CHEBI:50342 associated_with_disease_progression DOID:0050790 fibular hypoplasia and complex brachydactyly UniProtKB_VAR:VAR_017408 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_017408 20080301 PRO:CNA PR:000000441 growth/differentiation factor 5 sequence variant 5 (mouse) mGDF5/var:5 associated_with_disease_progression MP:0006279 abnormal limb development PMID:8145850 EXP NCBITaxon:10090 20080301 PRO:CNA PR:000036417 growth/differentiation factor 5 sequence variant V186* (mouse) bp-3J (mouse)|mGDF5/var:V186*|UniProtKB:P43027, 1-185 associated_with_disease_progression MP:0006279 abnormal limb development PMID:8145850 EXP NCBITaxon:10090 UniProtKB:P43027-1 20080301 PRO:CNA PR:000036417 growth/differentiation factor 5 sequence variant V186* (mouse) bp-3J (mouse)|mGDF5/var:V186*|UniProtKB:P43027, 1-185 has_agent SO:0001587 stop_gained PMID:8145850 EXP NCBITaxon:10090 UniProtKB:P43027-1 20080301 PRO:CNA PR:000036543 growth/differentiation factor 5 isoform 1 cleaved 1 (human) hGDF5/iso:1/Clv:1|PRO_0000033913|UniProtKB:P43026-1, 382-501 enables GO:0042803 protein homodimerization activity PMID:15752764|PMID:8962721 IDA NCBITaxon:9606 UniProtKB:P43026-1 20090630 PRO:CNA PR:000036543 growth/differentiation factor 5 isoform 1 cleaved 1 (human) hGDF5/iso:1/Clv:1|PRO_0000033913|UniProtKB:P43026-1, 382-501 enables GO:0008083 growth factor activity PMID:8589725 IDA NCBITaxon:9606 UniProtKB:P43026-1 20090630 PRO:CNA PR:000036543 growth/differentiation factor 5 isoform 1 cleaved 1 (human) hGDF5/iso:1/Clv:1|PRO_0000033913|UniProtKB:P43026-1, 382-501 enables GO:0005102 signaling receptor binding PMID:15752764|PMID:15890363 IDA NCBITaxon:9606 UniProtKB:P43026-1 20080301 PRO:CNA PR:000036543 growth/differentiation factor 5 isoform 1 cleaved 1 (human) hGDF5/iso:1/Clv:1|PRO_0000033913|UniProtKB:P43026-1, 382-501 located_in GO:0005615 extracellular space PMID:16532400 IDA NCBITaxon:9606 UniProtKB:P43026-1 20090630 PRO:CNA PR:000036543 growth/differentiation factor 5 isoform 1 cleaved 1 (human) hGDF5/iso:1/Clv:1|PRO_0000033913|UniProtKB:P43026-1, 382-501 enables GO:0005515 protein binding PR:P12643 PMID:9288098 IPI NCBITaxon:9606 UniProtKB:P43026-1 20090630 PRO:CNA PR:P43026-1 growth/differentiation factor 5 isoform 1 (human) hGDF5/iso:1 acts_upstream_of_or_within GO:0007267 cell-cell signaling PMID:8589725 TAS NCBITaxon:9606 UniProtKB:P43026-1 20080301 PRO:CNA PR:P43026-1 growth/differentiation factor 5 isoform 1 (human) hGDF5/iso:1 acts_upstream_of_or_within GO:0007179 transforming growth factor beta receptor signaling pathway PMID:7961761 TAS NCBITaxon:9606 UniProtKB:P43026-1 20080301 PRO:CNA