http://rdf.disgenet.org/resource/nanopub/NP1385146.RArhnR-CzirFNzHxtRNPGIGib3t8rprn59m5MaGHgrejc#head http://rdf.disgenet.org/resource/nanopub/NP1385146.RArhnR-CzirFNzHxtRNPGIGib3t8rprn59m5MaGHgrejc http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1385146.RArhnR-CzirFNzHxtRNPGIGib3t8rprn59m5MaGHgrejc#assertion http://rdf.disgenet.org/resource/nanopub/NP1385146.RArhnR-CzirFNzHxtRNPGIGib3t8rprn59m5MaGHgrejc http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1385146.RArhnR-CzirFNzHxtRNPGIGib3t8rprn59m5MaGHgrejc#provenance http://rdf.disgenet.org/resource/nanopub/NP1385146.RArhnR-CzirFNzHxtRNPGIGib3t8rprn59m5MaGHgrejc http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1385146.RArhnR-CzirFNzHxtRNPGIGib3t8rprn59m5MaGHgrejc#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1385146.RArhnR-CzirFNzHxtRNPGIGib3t8rprn59m5MaGHgrejc http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1385146.RArhnR-CzirFNzHxtRNPGIGib3t8rprn59m5MaGHgrejc#assertion http://rdf.disgenet.org/resource/gda/DGN7595b55ea5efe0abf4fdbf60cf25388e http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/84432 http://rdf.disgenet.org/resource/gda/DGN7595b55ea5efe0abf4fdbf60cf25388e http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0019569 http://rdf.disgenet.org/resource/gda/DGN7595b55ea5efe0abf4fdbf60cf25388e http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP1385146.RArhnR-CzirFNzHxtRNPGIGib3t8rprn59m5MaGHgrejc#provenance http://rdf.disgenet.org/resource/nanopub/NP1385146.RArhnR-CzirFNzHxtRNPGIGib3t8rprn59m5MaGHgrejc#assertion http://purl.org/dc/terms/description [These findings, together with the detection of sequence variants in PROKR1, PROK1 and PROKR2 genes associated to HSCR and, in some cases in combination with RET or GDNF mutations, provide the first evidence to consider them as susceptibility genes for HSCR.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1385146.RArhnR-CzirFNzHxtRNPGIGib3t8rprn59m5MaGHgrejc#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/NP1385146.RArhnR-CzirFNzHxtRNPGIGib3t8rprn59m5MaGHgrejc#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/21858136 http://rdf.disgenet.org/resource/nanopub/NP1385146.RArhnR-CzirFNzHxtRNPGIGib3t8rprn59m5MaGHgrejc#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP1385146.RArhnR-CzirFNzHxtRNPGIGib3t8rprn59m5MaGHgrejc#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/NP1385146.RArhnR-CzirFNzHxtRNPGIGib3t8rprn59m5MaGHgrejc#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1385146.RArhnR-CzirFNzHxtRNPGIGib3t8rprn59m5MaGHgrejc http://purl.org/dc/terms/created 2017-10-17T13:18:59+02:00 http://rdf.disgenet.org/resource/nanopub/NP1385146.RArhnR-CzirFNzHxtRNPGIGib3t8rprn59m5MaGHgrejc http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1385146.RArhnR-CzirFNzHxtRNPGIGib3t8rprn59m5MaGHgrejc http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1385146.RArhnR-CzirFNzHxtRNPGIGib3t8rprn59m5MaGHgrejc http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1385146.RArhnR-CzirFNzHxtRNPGIGib3t8rprn59m5MaGHgrejc http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1385146.RArhnR-CzirFNzHxtRNPGIGib3t8rprn59m5MaGHgrejc http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1385146.RArhnR-CzirFNzHxtRNPGIGib3t8rprn59m5MaGHgrejc http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1385146.RArhnR-CzirFNzHxtRNPGIGib3t8rprn59m5MaGHgrejc http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1385146.RArhnR-CzirFNzHxtRNPGIGib3t8rprn59m5MaGHgrejc http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1385146.RArhnR-CzirFNzHxtRNPGIGib3t8rprn59m5MaGHgrejc http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1385146.RArhnR-CzirFNzHxtRNPGIGib3t8rprn59m5MaGHgrejc http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1385146.RArhnR-CzirFNzHxtRNPGIGib3t8rprn59m5MaGHgrejc 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