http://rdf.disgenet.org/resource/nanopub/NP513626.RA5hDP5za7zu0jRl4ILRMq31OAbAiuhGk7L2CSHYkz6kQ130_head
http://rdf.disgenet.org/resource/nanopub/NP513626.RA5hDP5za7zu0jRl4ILRMq31OAbAiuhGk7L2CSHYkz6kQ
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP513626.RA5hDP5za7zu0jRl4ILRMq31OAbAiuhGk7L2CSHYkz6kQ130_assertion
http://rdf.disgenet.org/resource/nanopub/NP513626.RA5hDP5za7zu0jRl4ILRMq31OAbAiuhGk7L2CSHYkz6kQ
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP513626.RA5hDP5za7zu0jRl4ILRMq31OAbAiuhGk7L2CSHYkz6kQ130_provenance
http://rdf.disgenet.org/resource/nanopub/NP513626.RA5hDP5za7zu0jRl4ILRMq31OAbAiuhGk7L2CSHYkz6kQ
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP513626.RA5hDP5za7zu0jRl4ILRMq31OAbAiuhGk7L2CSHYkz6kQ130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP513626.RA5hDP5za7zu0jRl4ILRMq31OAbAiuhGk7L2CSHYkz6kQ
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP513626.RA5hDP5za7zu0jRl4ILRMq31OAbAiuhGk7L2CSHYkz6kQ130_assertion
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Assertion
http://rdf.disgenet.org/resource/nanopub/NP513626.RA5hDP5za7zu0jRl4ILRMq31OAbAiuhGk7L2CSHYkz6kQ130_provenance
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Provenance
http://rdf.disgenet.org/resource/nanopub/NP513626.RA5hDP5za7zu0jRl4ILRMq31OAbAiuhGk7L2CSHYkz6kQ130_publicationInfo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#PublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP513626.RA5hDP5za7zu0jRl4ILRMq31OAbAiuhGk7L2CSHYkz6kQ130_assertion
http://identifiers.org/ncbigene/3643
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/C0020456
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/DGN770870818d2b72c0ee2e88ea7003cdd1
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/3643
http://rdf.disgenet.org/resource/gda/DGN770870818d2b72c0ee2e88ea7003cdd1
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0020456
http://rdf.disgenet.org/resource/gda/DGN770870818d2b72c0ee2e88ea7003cdd1
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001121
http://rdf.disgenet.org/resource/nanopub/NP513626.RA5hDP5za7zu0jRl4ILRMq31OAbAiuhGk7L2CSHYkz6kQ130_provenance
http://rdf.disgenet.org/resource/nanopub/NP513626.RA5hDP5za7zu0jRl4ILRMq31OAbAiuhGk7L2CSHYkz6kQ130_assertion
http://purl.org/dc/terms/description
[Homozygous or compound heterozygous mutations within the insulin binding domain of the human insulin receptor (INSR) are usually associated with severe impairment of insulin binding leading to Donohue syndrome ('Leprechaunism'), which is characterized by excessive hyperglycemia with hyperinsulinism, pre- and postnatal growth retardation, distinct dysmorphism and early death.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP513626.RA5hDP5za7zu0jRl4ILRMq31OAbAiuhGk7L2CSHYkz6kQ130_assertion
http://purl.org/ontology/wi/core#evidence
http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature
http://rdf.disgenet.org/resource/nanopub/NP513626.RA5hDP5za7zu0jRl4ILRMq31OAbAiuhGk7L2CSHYkz6kQ130_assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/18411068
http://rdf.disgenet.org/resource/nanopub/NP513626.RA5hDP5za7zu0jRl4ILRMq31OAbAiuhGk7L2CSHYkz6kQ130_assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v3.0.0/void/befree-20150227
http://rdf.disgenet.org/resource/nanopub/NP513626.RA5hDP5za7zu0jRl4ILRMq31OAbAiuhGk7L2CSHYkz6kQ130_assertion
http://www.w3.org/ns/prov#wasGeneratedBy
http://purl.obolibrary.org/obo/ECO_0000203
http://rdf.disgenet.org/v3.0.0/void/befree-20150227
http://purl.org/pav/importedOn
2015-02-27
http://rdf.disgenet.org/v3.0.0/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/v3.0.0/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/v3.0.0/void/source_evidence_literature
http://www.w3.org/2000/01/rdf-schema#label
DisGeNET evidence - LITERATURE
http://rdf.disgenet.org/resource/nanopub/NP513626.RA5hDP5za7zu0jRl4ILRMq31OAbAiuhGk7L2CSHYkz6kQ130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP513626.RA5hDP5za7zu0jRl4ILRMq31OAbAiuhGk7L2CSHYkz6kQ
http://purl.org/dc/terms/created
2015-08-25T14:42:43+02:00
http://rdf.disgenet.org/resource/nanopub/NP513626.RA5hDP5za7zu0jRl4ILRMq31OAbAiuhGk7L2CSHYkz6kQ
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP513626.RA5hDP5za7zu0jRl4ILRMq31OAbAiuhGk7L2CSHYkz6kQ
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v3.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP513626.RA5hDP5za7zu0jRl4ILRMq31OAbAiuhGk7L2CSHYkz6kQ
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP513626.RA5hDP5za7zu0jRl4ILRMq31OAbAiuhGk7L2CSHYkz6kQ
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP513626.RA5hDP5za7zu0jRl4ILRMq31OAbAiuhGk7L2CSHYkz6kQ
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP513626.RA5hDP5za7zu0jRl4ILRMq31OAbAiuhGk7L2CSHYkz6kQ
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP513626.RA5hDP5za7zu0jRl4ILRMq31OAbAiuhGk7L2CSHYkz6kQ
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP513626.RA5hDP5za7zu0jRl4ILRMq31OAbAiuhGk7L2CSHYkz6kQ
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP513626.RA5hDP5za7zu0jRl4ILRMq31OAbAiuhGk7L2CSHYkz6kQ
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP513626.RA5hDP5za7zu0jRl4ILRMq31OAbAiuhGk7L2CSHYkz6kQ
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP513626.RA5hDP5za7zu0jRl4ILRMq31OAbAiuhGk7L2CSHYkz6kQ
http://purl.org/pav/version
v3.0.0.0
http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf
http://purl.org/pav/version
v3.0.0