http://rdf.disgenet.org/resource/nanopub/NP1402137.RAGWiFo85WSYq0TZ8ua8wQ7uh8vXXcXhMCRdLNiU8rMu8#head http://rdf.disgenet.org/resource/nanopub/NP1402137.RAGWiFo85WSYq0TZ8ua8wQ7uh8vXXcXhMCRdLNiU8rMu8 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1402137.RAGWiFo85WSYq0TZ8ua8wQ7uh8vXXcXhMCRdLNiU8rMu8#assertion http://rdf.disgenet.org/resource/nanopub/NP1402137.RAGWiFo85WSYq0TZ8ua8wQ7uh8vXXcXhMCRdLNiU8rMu8 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1402137.RAGWiFo85WSYq0TZ8ua8wQ7uh8vXXcXhMCRdLNiU8rMu8#provenance http://rdf.disgenet.org/resource/nanopub/NP1402137.RAGWiFo85WSYq0TZ8ua8wQ7uh8vXXcXhMCRdLNiU8rMu8 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1402137.RAGWiFo85WSYq0TZ8ua8wQ7uh8vXXcXhMCRdLNiU8rMu8#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1402137.RAGWiFo85WSYq0TZ8ua8wQ7uh8vXXcXhMCRdLNiU8rMu8 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1402137.RAGWiFo85WSYq0TZ8ua8wQ7uh8vXXcXhMCRdLNiU8rMu8#assertion http://rdf.disgenet.org/resource/gda/DGN0378cbbecb14fc8db1baac0b537e067c http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/124583 http://rdf.disgenet.org/resource/gda/DGN0378cbbecb14fc8db1baac0b537e067c http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0432242 http://rdf.disgenet.org/resource/gda/DGN0378cbbecb14fc8db1baac0b537e067c http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP1402137.RAGWiFo85WSYq0TZ8ua8wQ7uh8vXXcXhMCRdLNiU8rMu8#provenance http://rdf.disgenet.org/resource/nanopub/NP1402137.RAGWiFo85WSYq0TZ8ua8wQ7uh8vXXcXhMCRdLNiU8rMu8#assertion http://purl.org/dc/terms/description [Catel-Manzke syndrome has overlapping features with Desbuquois dysplasia type 1 due to CANT1 (calcium-activated nucleotidase 1) mutations and also with 'chondrodysplasia with joint dislocations, gPAPP type' due to IMPAD1 (Inositol Monophosphatase Domain containing 1) mutations recently reported in four patients, all characterized by short stature, joint dislocations, brachydactyly and cleft palate.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1402137.RAGWiFo85WSYq0TZ8ua8wQ7uh8vXXcXhMCRdLNiU8rMu8#assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP1402137.RAGWiFo85WSYq0TZ8ua8wQ7uh8vXXcXhMCRdLNiU8rMu8#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/22887726 http://rdf.disgenet.org/resource/nanopub/NP1402137.RAGWiFo85WSYq0TZ8ua8wQ7uh8vXXcXhMCRdLNiU8rMu8#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP1402137.RAGWiFo85WSYq0TZ8ua8wQ7uh8vXXcXhMCRdLNiU8rMu8#assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v5.0.0/void/BEFREE http://purl.org/pav/importedOn 2017-02-19 http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/ECO_0000212 http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#comment Gene-disease associations inferred from text-mining the literature. http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP1402137.RAGWiFo85WSYq0TZ8ua8wQ7uh8vXXcXhMCRdLNiU8rMu8#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1402137.RAGWiFo85WSYq0TZ8ua8wQ7uh8vXXcXhMCRdLNiU8rMu8 http://purl.org/dc/terms/created 2017-10-17T13:19:05+02:00 http://rdf.disgenet.org/resource/nanopub/NP1402137.RAGWiFo85WSYq0TZ8ua8wQ7uh8vXXcXhMCRdLNiU8rMu8 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1402137.RAGWiFo85WSYq0TZ8ua8wQ7uh8vXXcXhMCRdLNiU8rMu8 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1402137.RAGWiFo85WSYq0TZ8ua8wQ7uh8vXXcXhMCRdLNiU8rMu8 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1402137.RAGWiFo85WSYq0TZ8ua8wQ7uh8vXXcXhMCRdLNiU8rMu8 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1402137.RAGWiFo85WSYq0TZ8ua8wQ7uh8vXXcXhMCRdLNiU8rMu8 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1402137.RAGWiFo85WSYq0TZ8ua8wQ7uh8vXXcXhMCRdLNiU8rMu8 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1402137.RAGWiFo85WSYq0TZ8ua8wQ7uh8vXXcXhMCRdLNiU8rMu8 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1402137.RAGWiFo85WSYq0TZ8ua8wQ7uh8vXXcXhMCRdLNiU8rMu8 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1402137.RAGWiFo85WSYq0TZ8ua8wQ7uh8vXXcXhMCRdLNiU8rMu8 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1402137.RAGWiFo85WSYq0TZ8ua8wQ7uh8vXXcXhMCRdLNiU8rMu8 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1402137.RAGWiFo85WSYq0TZ8ua8wQ7uh8vXXcXhMCRdLNiU8rMu8 http://purl.org/pav/version v5.0.0.0 http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v5.0.0