http://rdf.disgenet.org/resource/nanopub/NP1124256.RAtsnD6njGQgi3MfwNoK2vaXpUql9rfwD4hF-NeVaBo1M130_head http://rdf.disgenet.org/resource/nanopub/NP1124256.RAtsnD6njGQgi3MfwNoK2vaXpUql9rfwD4hF-NeVaBo1M http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1124256.RAtsnD6njGQgi3MfwNoK2vaXpUql9rfwD4hF-NeVaBo1M130_assertion http://rdf.disgenet.org/resource/nanopub/NP1124256.RAtsnD6njGQgi3MfwNoK2vaXpUql9rfwD4hF-NeVaBo1M http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1124256.RAtsnD6njGQgi3MfwNoK2vaXpUql9rfwD4hF-NeVaBo1M130_provenance http://rdf.disgenet.org/resource/nanopub/NP1124256.RAtsnD6njGQgi3MfwNoK2vaXpUql9rfwD4hF-NeVaBo1M http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1124256.RAtsnD6njGQgi3MfwNoK2vaXpUql9rfwD4hF-NeVaBo1M130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1124256.RAtsnD6njGQgi3MfwNoK2vaXpUql9rfwD4hF-NeVaBo1M http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1124256.RAtsnD6njGQgi3MfwNoK2vaXpUql9rfwD4hF-NeVaBo1M130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP1124256.RAtsnD6njGQgi3MfwNoK2vaXpUql9rfwD4hF-NeVaBo1M130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP1124256.RAtsnD6njGQgi3MfwNoK2vaXpUql9rfwD4hF-NeVaBo1M130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1124256.RAtsnD6njGQgi3MfwNoK2vaXpUql9rfwD4hF-NeVaBo1M130_assertion http://identifiers.org/ncbigene/52 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/C0028326 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/DGNecce5e3489ab848561501cb894343321 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/52 http://rdf.disgenet.org/resource/gda/DGNecce5e3489ab848561501cb894343321 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0028326 http://rdf.disgenet.org/resource/gda/DGNecce5e3489ab848561501cb894343321 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP1124256.RAtsnD6njGQgi3MfwNoK2vaXpUql9rfwD4hF-NeVaBo1M130_provenance http://rdf.disgenet.org/resource/nanopub/NP1124256.RAtsnD6njGQgi3MfwNoK2vaXpUql9rfwD4hF-NeVaBo1M130_assertion http://purl.org/dc/terms/description [Noonan syndrome (NS) is inherited as an autosomal dominant disorder with dysmorphic facies, short stature, and cardiac defects, which can be caused by missense mutations in the protein tyrosine phosphatase nonreceptor type 11 (PTPN11) gene, which encodes src homology region 2 domain containing tyrosine phosphatase-2 (SHP-2), a protein tyrosine phosphatase that acts in signal transduction downstream to growth factors and cytokines.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1124256.RAtsnD6njGQgi3MfwNoK2vaXpUql9rfwD4hF-NeVaBo1M130_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/NP1124256.RAtsnD6njGQgi3MfwNoK2vaXpUql9rfwD4hF-NeVaBo1M130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/24183200 http://rdf.disgenet.org/resource/nanopub/NP1124256.RAtsnD6njGQgi3MfwNoK2vaXpUql9rfwD4hF-NeVaBo1M130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP1124256.RAtsnD6njGQgi3MfwNoK2vaXpUql9rfwD4hF-NeVaBo1M130_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/NP1124256.RAtsnD6njGQgi3MfwNoK2vaXpUql9rfwD4hF-NeVaBo1M130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1124256.RAtsnD6njGQgi3MfwNoK2vaXpUql9rfwD4hF-NeVaBo1M http://purl.org/dc/terms/created 2016-05-13T12:50:16+02:00 http://rdf.disgenet.org/resource/nanopub/NP1124256.RAtsnD6njGQgi3MfwNoK2vaXpUql9rfwD4hF-NeVaBo1M http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1124256.RAtsnD6njGQgi3MfwNoK2vaXpUql9rfwD4hF-NeVaBo1M http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1124256.RAtsnD6njGQgi3MfwNoK2vaXpUql9rfwD4hF-NeVaBo1M http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1124256.RAtsnD6njGQgi3MfwNoK2vaXpUql9rfwD4hF-NeVaBo1M http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1124256.RAtsnD6njGQgi3MfwNoK2vaXpUql9rfwD4hF-NeVaBo1M http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1124256.RAtsnD6njGQgi3MfwNoK2vaXpUql9rfwD4hF-NeVaBo1M http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1124256.RAtsnD6njGQgi3MfwNoK2vaXpUql9rfwD4hF-NeVaBo1M http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1124256.RAtsnD6njGQgi3MfwNoK2vaXpUql9rfwD4hF-NeVaBo1M http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1124256.RAtsnD6njGQgi3MfwNoK2vaXpUql9rfwD4hF-NeVaBo1M http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1124256.RAtsnD6njGQgi3MfwNoK2vaXpUql9rfwD4hF-NeVaBo1M http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1124256.RAtsnD6njGQgi3MfwNoK2vaXpUql9rfwD4hF-NeVaBo1M 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