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:000000190 TGF-beta receptor type-1 sequence variant S241L (human) hTGFBR1/var:S241L|TGF-beta receptor type-1 sequence variant 3 (human)|UniProtKB:P36897-1, Ser-241, CHEBI:30006 associated_with_disease_progression DOID:0050466 Loeys-Dietz syndrome PMID:16596670|PMID:16791849 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_029482 20080301 PRO:CNA