http://rdf.disgenet.org/resource/nanopub/NP1411736.RApajtJ3IlmC3078Fm5RgexVXpkop4T5vyRZtVLqPNOIQ#head http://rdf.disgenet.org/resource/nanopub/NP1411736.RApajtJ3IlmC3078Fm5RgexVXpkop4T5vyRZtVLqPNOIQ http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1411736.RApajtJ3IlmC3078Fm5RgexVXpkop4T5vyRZtVLqPNOIQ#assertion http://rdf.disgenet.org/resource/nanopub/NP1411736.RApajtJ3IlmC3078Fm5RgexVXpkop4T5vyRZtVLqPNOIQ http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1411736.RApajtJ3IlmC3078Fm5RgexVXpkop4T5vyRZtVLqPNOIQ#provenance http://rdf.disgenet.org/resource/nanopub/NP1411736.RApajtJ3IlmC3078Fm5RgexVXpkop4T5vyRZtVLqPNOIQ http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1411736.RApajtJ3IlmC3078Fm5RgexVXpkop4T5vyRZtVLqPNOIQ#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1411736.RApajtJ3IlmC3078Fm5RgexVXpkop4T5vyRZtVLqPNOIQ http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1411736.RApajtJ3IlmC3078Fm5RgexVXpkop4T5vyRZtVLqPNOIQ#assertion http://rdf.disgenet.org/resource/gda/DGNaa4df7458ed1f682111266323a1d64c6 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/158326 http://rdf.disgenet.org/resource/gda/DGNaa4df7458ed1f682111266323a1d64c6 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C1855425 http://rdf.disgenet.org/resource/gda/DGNaa4df7458ed1f682111266323a1d64c6 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP1411736.RApajtJ3IlmC3078Fm5RgexVXpkop4T5vyRZtVLqPNOIQ#provenance http://rdf.disgenet.org/resource/nanopub/NP1411736.RApajtJ3IlmC3078Fm5RgexVXpkop4T5vyRZtVLqPNOIQ#assertion http://purl.org/dc/terms/description [Recessive mutations in the FRAS1-related extracellular matrix 1 (FREM1) gene have been shown to cause bifid nose with or without anorectal and renal anomalies (BNAR) syndrome and Manitoba oculotrichoanal (MOTA) syndrome, but have not been previously implicated in the development of CDH.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1411736.RApajtJ3IlmC3078Fm5RgexVXpkop4T5vyRZtVLqPNOIQ#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/NP1411736.RApajtJ3IlmC3078Fm5RgexVXpkop4T5vyRZtVLqPNOIQ#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/23221805 http://rdf.disgenet.org/resource/nanopub/NP1411736.RApajtJ3IlmC3078Fm5RgexVXpkop4T5vyRZtVLqPNOIQ#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP1411736.RApajtJ3IlmC3078Fm5RgexVXpkop4T5vyRZtVLqPNOIQ#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/NP1411736.RApajtJ3IlmC3078Fm5RgexVXpkop4T5vyRZtVLqPNOIQ#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1411736.RApajtJ3IlmC3078Fm5RgexVXpkop4T5vyRZtVLqPNOIQ http://purl.org/dc/terms/created 2017-10-17T13:19:09+02:00 http://rdf.disgenet.org/resource/nanopub/NP1411736.RApajtJ3IlmC3078Fm5RgexVXpkop4T5vyRZtVLqPNOIQ http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1411736.RApajtJ3IlmC3078Fm5RgexVXpkop4T5vyRZtVLqPNOIQ http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1411736.RApajtJ3IlmC3078Fm5RgexVXpkop4T5vyRZtVLqPNOIQ http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1411736.RApajtJ3IlmC3078Fm5RgexVXpkop4T5vyRZtVLqPNOIQ http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1411736.RApajtJ3IlmC3078Fm5RgexVXpkop4T5vyRZtVLqPNOIQ http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1411736.RApajtJ3IlmC3078Fm5RgexVXpkop4T5vyRZtVLqPNOIQ http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1411736.RApajtJ3IlmC3078Fm5RgexVXpkop4T5vyRZtVLqPNOIQ http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1411736.RApajtJ3IlmC3078Fm5RgexVXpkop4T5vyRZtVLqPNOIQ http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1411736.RApajtJ3IlmC3078Fm5RgexVXpkop4T5vyRZtVLqPNOIQ http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1411736.RApajtJ3IlmC3078Fm5RgexVXpkop4T5vyRZtVLqPNOIQ http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1411736.RApajtJ3IlmC3078Fm5RgexVXpkop4T5vyRZtVLqPNOIQ 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