http://rdf.disgenet.org/resource/nanopub/NP1346082.RA-HdlL8CCC9uBB_gA-ndks2Ts793tV3xpwGW_LchfyPE130_head
http://rdf.disgenet.org/resource/nanopub/NP1346082.RA-HdlL8CCC9uBB_gA-ndks2Ts793tV3xpwGW_LchfyPE
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP1346082.RA-HdlL8CCC9uBB_gA-ndks2Ts793tV3xpwGW_LchfyPE130_assertion
http://rdf.disgenet.org/resource/nanopub/NP1346082.RA-HdlL8CCC9uBB_gA-ndks2Ts793tV3xpwGW_LchfyPE
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP1346082.RA-HdlL8CCC9uBB_gA-ndks2Ts793tV3xpwGW_LchfyPE130_provenance
http://rdf.disgenet.org/resource/nanopub/NP1346082.RA-HdlL8CCC9uBB_gA-ndks2Ts793tV3xpwGW_LchfyPE
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1346082.RA-HdlL8CCC9uBB_gA-ndks2Ts793tV3xpwGW_LchfyPE130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1346082.RA-HdlL8CCC9uBB_gA-ndks2Ts793tV3xpwGW_LchfyPE
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP1346082.RA-HdlL8CCC9uBB_gA-ndks2Ts793tV3xpwGW_LchfyPE130_assertion
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Assertion
http://rdf.disgenet.org/resource/nanopub/NP1346082.RA-HdlL8CCC9uBB_gA-ndks2Ts793tV3xpwGW_LchfyPE130_provenance
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Provenance
http://rdf.disgenet.org/resource/nanopub/NP1346082.RA-HdlL8CCC9uBB_gA-ndks2Ts793tV3xpwGW_LchfyPE130_publicationInfo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#PublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1346082.RA-HdlL8CCC9uBB_gA-ndks2Ts793tV3xpwGW_LchfyPE130_assertion
http://identifiers.org/ncbigene/5979
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/C0019569
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/DGN664ef9af900b02f3422800e7ff5287f1
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/5979
http://rdf.disgenet.org/resource/gda/DGN664ef9af900b02f3422800e7ff5287f1
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0019569
http://rdf.disgenet.org/resource/gda/DGN664ef9af900b02f3422800e7ff5287f1
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001121
http://rdf.disgenet.org/resource/nanopub/NP1346082.RA-HdlL8CCC9uBB_gA-ndks2Ts793tV3xpwGW_LchfyPE130_provenance
http://rdf.disgenet.org/resource/nanopub/NP1346082.RA-HdlL8CCC9uBB_gA-ndks2Ts793tV3xpwGW_LchfyPE130_assertion
http://purl.org/dc/terms/description
[It has been shown that distinct germline mutations in the RET proto-oncogene are associated with the dominantly inherited cancer syndromes multiple endocrine neoplasia type 2A and 2B (MEN 2A and MEN 2B) and familial medullary thyroid carcinoma (FMTC) as well as Hirschsprung disease (HSCR), a congenital disorder characterised by absent enteric innervation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP1346082.RA-HdlL8CCC9uBB_gA-ndks2Ts793tV3xpwGW_LchfyPE130_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/NP1346082.RA-HdlL8CCC9uBB_gA-ndks2Ts793tV3xpwGW_LchfyPE130_assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/8570194
http://rdf.disgenet.org/resource/nanopub/NP1346082.RA-HdlL8CCC9uBB_gA-ndks2Ts793tV3xpwGW_LchfyPE130_assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v4.0.0/void/befree-2016
http://rdf.disgenet.org/resource/nanopub/NP1346082.RA-HdlL8CCC9uBB_gA-ndks2Ts793tV3xpwGW_LchfyPE130_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/NP1346082.RA-HdlL8CCC9uBB_gA-ndks2Ts793tV3xpwGW_LchfyPE130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1346082.RA-HdlL8CCC9uBB_gA-ndks2Ts793tV3xpwGW_LchfyPE
http://purl.org/dc/terms/created
2016-05-13T12:51:56+02:00
http://rdf.disgenet.org/resource/nanopub/NP1346082.RA-HdlL8CCC9uBB_gA-ndks2Ts793tV3xpwGW_LchfyPE
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP1346082.RA-HdlL8CCC9uBB_gA-ndks2Ts793tV3xpwGW_LchfyPE
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v4.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP1346082.RA-HdlL8CCC9uBB_gA-ndks2Ts793tV3xpwGW_LchfyPE
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP1346082.RA-HdlL8CCC9uBB_gA-ndks2Ts793tV3xpwGW_LchfyPE
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP1346082.RA-HdlL8CCC9uBB_gA-ndks2Ts793tV3xpwGW_LchfyPE
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP1346082.RA-HdlL8CCC9uBB_gA-ndks2Ts793tV3xpwGW_LchfyPE
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP1346082.RA-HdlL8CCC9uBB_gA-ndks2Ts793tV3xpwGW_LchfyPE
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP1346082.RA-HdlL8CCC9uBB_gA-ndks2Ts793tV3xpwGW_LchfyPE
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1346082.RA-HdlL8CCC9uBB_gA-ndks2Ts793tV3xpwGW_LchfyPE
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP1346082.RA-HdlL8CCC9uBB_gA-ndks2Ts793tV3xpwGW_LchfyPE
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1346082.RA-HdlL8CCC9uBB_gA-ndks2Ts793tV3xpwGW_LchfyPE
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