http://rdf.disgenet.org/resource/nanopub/NP449092.RAeyTyZeCseYJEls_XztZtJYHhyi8q17s9l32hEQgcVOU#head http://rdf.disgenet.org/resource/nanopub/NP449092.RAeyTyZeCseYJEls_XztZtJYHhyi8q17s9l32hEQgcVOU http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP449092.RAeyTyZeCseYJEls_XztZtJYHhyi8q17s9l32hEQgcVOU#assertion http://rdf.disgenet.org/resource/nanopub/NP449092.RAeyTyZeCseYJEls_XztZtJYHhyi8q17s9l32hEQgcVOU http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP449092.RAeyTyZeCseYJEls_XztZtJYHhyi8q17s9l32hEQgcVOU#provenance http://rdf.disgenet.org/resource/nanopub/NP449092.RAeyTyZeCseYJEls_XztZtJYHhyi8q17s9l32hEQgcVOU http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP449092.RAeyTyZeCseYJEls_XztZtJYHhyi8q17s9l32hEQgcVOU#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP449092.RAeyTyZeCseYJEls_XztZtJYHhyi8q17s9l32hEQgcVOU http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP449092.RAeyTyZeCseYJEls_XztZtJYHhyi8q17s9l32hEQgcVOU#assertion http://rdf.disgenet.org/resource/gda/DGN295780cee1f698beab04b97e914f3554 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2778 http://rdf.disgenet.org/resource/gda/DGN295780cee1f698beab04b97e914f3554 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C2931404 http://rdf.disgenet.org/resource/gda/DGN295780cee1f698beab04b97e914f3554 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP449092.RAeyTyZeCseYJEls_XztZtJYHhyi8q17s9l32hEQgcVOU#provenance http://rdf.disgenet.org/resource/nanopub/NP449092.RAeyTyZeCseYJEls_XztZtJYHhyi8q17s9l32hEQgcVOU#assertion http://purl.org/dc/terms/description [The GNAS1 gene exhibits imprinting and maternally inherited mutations have previously been shown to result in Albright's hereditary osteodystrophy (OMIM 103580) with pseudohypothyroidism type 1a, whereas paternally inherited mutations result in progressive osseous heteroplasia or the Albright's hereditary osteodystrophy phenotype with pseudopseudohypothyroidism (OMIM 300800).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP449092.RAeyTyZeCseYJEls_XztZtJYHhyi8q17s9l32hEQgcVOU#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/NP449092.RAeyTyZeCseYJEls_XztZtJYHhyi8q17s9l32hEQgcVOU#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/14723729 http://rdf.disgenet.org/resource/nanopub/NP449092.RAeyTyZeCseYJEls_XztZtJYHhyi8q17s9l32hEQgcVOU#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP449092.RAeyTyZeCseYJEls_XztZtJYHhyi8q17s9l32hEQgcVOU#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/NP449092.RAeyTyZeCseYJEls_XztZtJYHhyi8q17s9l32hEQgcVOU#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP449092.RAeyTyZeCseYJEls_XztZtJYHhyi8q17s9l32hEQgcVOU http://purl.org/dc/terms/created 2017-10-17T13:13:02+02:00 http://rdf.disgenet.org/resource/nanopub/NP449092.RAeyTyZeCseYJEls_XztZtJYHhyi8q17s9l32hEQgcVOU http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP449092.RAeyTyZeCseYJEls_XztZtJYHhyi8q17s9l32hEQgcVOU http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP449092.RAeyTyZeCseYJEls_XztZtJYHhyi8q17s9l32hEQgcVOU http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP449092.RAeyTyZeCseYJEls_XztZtJYHhyi8q17s9l32hEQgcVOU http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP449092.RAeyTyZeCseYJEls_XztZtJYHhyi8q17s9l32hEQgcVOU http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP449092.RAeyTyZeCseYJEls_XztZtJYHhyi8q17s9l32hEQgcVOU http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP449092.RAeyTyZeCseYJEls_XztZtJYHhyi8q17s9l32hEQgcVOU http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP449092.RAeyTyZeCseYJEls_XztZtJYHhyi8q17s9l32hEQgcVOU http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP449092.RAeyTyZeCseYJEls_XztZtJYHhyi8q17s9l32hEQgcVOU http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP449092.RAeyTyZeCseYJEls_XztZtJYHhyi8q17s9l32hEQgcVOU http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP449092.RAeyTyZeCseYJEls_XztZtJYHhyi8q17s9l32hEQgcVOU 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