http://rdf.disgenet.org/resource/nanopub/NP1040144.RA7_vUqddy_q5GyvZLwvHn6MjOJZoLEekSQXqrh9HtV00130_head http://rdf.disgenet.org/resource/nanopub/NP1040144.RA7_vUqddy_q5GyvZLwvHn6MjOJZoLEekSQXqrh9HtV00 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1040144.RA7_vUqddy_q5GyvZLwvHn6MjOJZoLEekSQXqrh9HtV00130_assertion http://rdf.disgenet.org/resource/nanopub/NP1040144.RA7_vUqddy_q5GyvZLwvHn6MjOJZoLEekSQXqrh9HtV00 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1040144.RA7_vUqddy_q5GyvZLwvHn6MjOJZoLEekSQXqrh9HtV00130_provenance http://rdf.disgenet.org/resource/nanopub/NP1040144.RA7_vUqddy_q5GyvZLwvHn6MjOJZoLEekSQXqrh9HtV00 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1040144.RA7_vUqddy_q5GyvZLwvHn6MjOJZoLEekSQXqrh9HtV00130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1040144.RA7_vUqddy_q5GyvZLwvHn6MjOJZoLEekSQXqrh9HtV00 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1040144.RA7_vUqddy_q5GyvZLwvHn6MjOJZoLEekSQXqrh9HtV00130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP1040144.RA7_vUqddy_q5GyvZLwvHn6MjOJZoLEekSQXqrh9HtV00130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP1040144.RA7_vUqddy_q5GyvZLwvHn6MjOJZoLEekSQXqrh9HtV00130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1040144.RA7_vUqddy_q5GyvZLwvHn6MjOJZoLEekSQXqrh9HtV00130_assertion http://identifiers.org/ncbigene/5077 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/C2931876 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/resource/gda/DGN47d33361b4ae1fae42d6d3e40e81aa80 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/5077 http://rdf.disgenet.org/resource/gda/DGN47d33361b4ae1fae42d6d3e40e81aa80 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C2931876 http://rdf.disgenet.org/resource/gda/DGN47d33361b4ae1fae42d6d3e40e81aa80 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP1040144.RA7_vUqddy_q5GyvZLwvHn6MjOJZoLEekSQXqrh9HtV00130_provenance http://rdf.disgenet.org/resource/nanopub/NP1040144.RA7_vUqddy_q5GyvZLwvHn6MjOJZoLEekSQXqrh9HtV00130_assertion http://purl.org/dc/terms/description [Taken together with the opposing effects of Pax3 and Tcof1 on NCC differentiation, the synergistic haploinsufficiency of Tcof1 and Pax3 results in colonic aganglionosis in mice and may contribute to the pathogenesis of Hirschsprung disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1040144.RA7_vUqddy_q5GyvZLwvHn6MjOJZoLEekSQXqrh9HtV00130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP1040144.RA7_vUqddy_q5GyvZLwvHn6MjOJZoLEekSQXqrh9HtV00130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/23283078 http://rdf.disgenet.org/resource/nanopub/NP1040144.RA7_vUqddy_q5GyvZLwvHn6MjOJZoLEekSQXqrh9HtV00130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP1040144.RA7_vUqddy_q5GyvZLwvHn6MjOJZoLEekSQXqrh9HtV00130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://purl.org/pav/importedOn 2016-02-19 http://rdf.disgenet.org/v4.0.0/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/v4.0.0/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/v4.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP1040144.RA7_vUqddy_q5GyvZLwvHn6MjOJZoLEekSQXqrh9HtV00130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1040144.RA7_vUqddy_q5GyvZLwvHn6MjOJZoLEekSQXqrh9HtV00 http://purl.org/dc/terms/created 2016-05-13T12:49:37+02:00 http://rdf.disgenet.org/resource/nanopub/NP1040144.RA7_vUqddy_q5GyvZLwvHn6MjOJZoLEekSQXqrh9HtV00 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1040144.RA7_vUqddy_q5GyvZLwvHn6MjOJZoLEekSQXqrh9HtV00 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1040144.RA7_vUqddy_q5GyvZLwvHn6MjOJZoLEekSQXqrh9HtV00 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1040144.RA7_vUqddy_q5GyvZLwvHn6MjOJZoLEekSQXqrh9HtV00 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1040144.RA7_vUqddy_q5GyvZLwvHn6MjOJZoLEekSQXqrh9HtV00 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1040144.RA7_vUqddy_q5GyvZLwvHn6MjOJZoLEekSQXqrh9HtV00 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1040144.RA7_vUqddy_q5GyvZLwvHn6MjOJZoLEekSQXqrh9HtV00 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1040144.RA7_vUqddy_q5GyvZLwvHn6MjOJZoLEekSQXqrh9HtV00 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1040144.RA7_vUqddy_q5GyvZLwvHn6MjOJZoLEekSQXqrh9HtV00 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1040144.RA7_vUqddy_q5GyvZLwvHn6MjOJZoLEekSQXqrh9HtV00 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1040144.RA7_vUqddy_q5GyvZLwvHn6MjOJZoLEekSQXqrh9HtV00 http://purl.org/pav/version v4.0.0.0 http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v4.0.0