http://rdf.disgenet.org/nanopublications.trig#NP640074.RAYkezBVsjVqZBSIz_NwPxnfqrkgr-3nTESCIsEFtLDoI130_head http://rdf.disgenet.org/nanopublications.trig#NP640074.RAYkezBVsjVqZBSIz_NwPxnfqrkgr-3nTESCIsEFtLDoI http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP640074.RAYkezBVsjVqZBSIz_NwPxnfqrkgr-3nTESCIsEFtLDoI130_assertion http://rdf.disgenet.org/nanopublications.trig#NP640074.RAYkezBVsjVqZBSIz_NwPxnfqrkgr-3nTESCIsEFtLDoI http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP640074.RAYkezBVsjVqZBSIz_NwPxnfqrkgr-3nTESCIsEFtLDoI130_provenance http://rdf.disgenet.org/nanopublications.trig#NP640074.RAYkezBVsjVqZBSIz_NwPxnfqrkgr-3nTESCIsEFtLDoI http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP640074.RAYkezBVsjVqZBSIz_NwPxnfqrkgr-3nTESCIsEFtLDoI130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP640074.RAYkezBVsjVqZBSIz_NwPxnfqrkgr-3nTESCIsEFtLDoI http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP640074.RAYkezBVsjVqZBSIz_NwPxnfqrkgr-3nTESCIsEFtLDoI130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP640074.RAYkezBVsjVqZBSIz_NwPxnfqrkgr-3nTESCIsEFtLDoI130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP640074.RAYkezBVsjVqZBSIz_NwPxnfqrkgr-3nTESCIsEFtLDoI130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP640074.RAYkezBVsjVqZBSIz_NwPxnfqrkgr-3nTESCIsEFtLDoI130_assertion http://identifiers.org/ncbigene/9839 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612 http://linkedlifedata.com/resource/umls/id/C0000768 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7057 http://rdf.disgenet.org/gene-disease-association.ttl#DGN0f4d580ae59f6eb6efe847279413bdc3 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/9839 http://rdf.disgenet.org/gene-disease-association.ttl#DGN0f4d580ae59f6eb6efe847279413bdc3 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0000768 http://rdf.disgenet.org/gene-disease-association.ttl#DGN0f4d580ae59f6eb6efe847279413bdc3 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP640074.RAYkezBVsjVqZBSIz_NwPxnfqrkgr-3nTESCIsEFtLDoI130_provenance http://rdf.disgenet.org/nanopublications.trig#NP640074.RAYkezBVsjVqZBSIz_NwPxnfqrkgr-3nTESCIsEFtLDoI130_assertion http://purl.org/dc/terms/description [Recently mutations in the gene ZFHX1B (SIP1) were shown in patients with `syndromic Hirschsprung disease` with mental retardation (MR) and multiple congenital anomalies (MCA), but it was unclear if Hirschsprung disease is an obligate symptom of these mutations and if the distinct facial phenotype delineated by Mowat et al.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP640074.RAYkezBVsjVqZBSIz_NwPxnfqrkgr-3nTESCIsEFtLDoI130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://rdf.disgenet.org/nanopublications.trig#NP640074.RAYkezBVsjVqZBSIz_NwPxnfqrkgr-3nTESCIsEFtLDoI130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/11891681 http://rdf.disgenet.org/nanopublications.trig#NP640074.RAYkezBVsjVqZBSIz_NwPxnfqrkgr-3nTESCIsEFtLDoI130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://rdf.disgenet.org/nanopublications.trig#NP640074.RAYkezBVsjVqZBSIz_NwPxnfqrkgr-3nTESCIsEFtLDoI130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/eco.owl#ECO_0000203 http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://purl.org/pav/2.0/importedOn 2014-02-25 http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/eco.owl#ECO_0000212 http://rdf.disgenet.org/v2.1.0/void.ttl#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/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/nanopublications.trig#NP640074.RAYkezBVsjVqZBSIz_NwPxnfqrkgr-3nTESCIsEFtLDoI130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP640074.RAYkezBVsjVqZBSIz_NwPxnfqrkgr-3nTESCIsEFtLDoI http://purl.org/dc/terms/created 2014-10-02T12:38:26+02:00 http://rdf.disgenet.org/nanopublications.trig#NP640074.RAYkezBVsjVqZBSIz_NwPxnfqrkgr-3nTESCIsEFtLDoI http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP640074.RAYkezBVsjVqZBSIz_NwPxnfqrkgr-3nTESCIsEFtLDoI http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP640074.RAYkezBVsjVqZBSIz_NwPxnfqrkgr-3nTESCIsEFtLDoI http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP640074.RAYkezBVsjVqZBSIz_NwPxnfqrkgr-3nTESCIsEFtLDoI http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP640074.RAYkezBVsjVqZBSIz_NwPxnfqrkgr-3nTESCIsEFtLDoI http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP640074.RAYkezBVsjVqZBSIz_NwPxnfqrkgr-3nTESCIsEFtLDoI http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP640074.RAYkezBVsjVqZBSIz_NwPxnfqrkgr-3nTESCIsEFtLDoI http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP640074.RAYkezBVsjVqZBSIz_NwPxnfqrkgr-3nTESCIsEFtLDoI http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP640074.RAYkezBVsjVqZBSIz_NwPxnfqrkgr-3nTESCIsEFtLDoI http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP640074.RAYkezBVsjVqZBSIz_NwPxnfqrkgr-3nTESCIsEFtLDoI http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP640074.RAYkezBVsjVqZBSIz_NwPxnfqrkgr-3nTESCIsEFtLDoI http://purl.org/pav/2.0/version v2.1.0.0 http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://purl.org/pav/2.0/version v2.1.0