http://rdf.disgenet.org/resource/nanopub/NP442396.RAqI-7uX2yUm3W6L5U5BdFwvL0VjCKsdS7KhJSCKqTaf4#head
http://rdf.disgenet.org/resource/nanopub/NP442396.RAqI-7uX2yUm3W6L5U5BdFwvL0VjCKsdS7KhJSCKqTaf4
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP442396.RAqI-7uX2yUm3W6L5U5BdFwvL0VjCKsdS7KhJSCKqTaf4#assertion
http://rdf.disgenet.org/resource/nanopub/NP442396.RAqI-7uX2yUm3W6L5U5BdFwvL0VjCKsdS7KhJSCKqTaf4
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP442396.RAqI-7uX2yUm3W6L5U5BdFwvL0VjCKsdS7KhJSCKqTaf4#provenance
http://rdf.disgenet.org/resource/nanopub/NP442396.RAqI-7uX2yUm3W6L5U5BdFwvL0VjCKsdS7KhJSCKqTaf4
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP442396.RAqI-7uX2yUm3W6L5U5BdFwvL0VjCKsdS7KhJSCKqTaf4#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP442396.RAqI-7uX2yUm3W6L5U5BdFwvL0VjCKsdS7KhJSCKqTaf4
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP442396.RAqI-7uX2yUm3W6L5U5BdFwvL0VjCKsdS7KhJSCKqTaf4#assertion
http://rdf.disgenet.org/resource/gda/DGNd49255306a98c8915c018a9af1f2b941
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/2706
http://rdf.disgenet.org/resource/gda/DGNd49255306a98c8915c018a9af1f2b941
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0018784
http://rdf.disgenet.org/resource/gda/DGNd49255306a98c8915c018a9af1f2b941
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001121
http://rdf.disgenet.org/resource/nanopub/NP442396.RAqI-7uX2yUm3W6L5U5BdFwvL0VjCKsdS7KhJSCKqTaf4#provenance
http://rdf.disgenet.org/resource/nanopub/NP442396.RAqI-7uX2yUm3W6L5U5BdFwvL0VjCKsdS7KhJSCKqTaf4#assertion
http://purl.org/dc/terms/description
[The tests included two diseases associated with death in childhood (Niemann-Pick type A and Tay-Sachs disease), five with moderate disability and a variably shortened life span (Bloom syndrome, Canavan disease, cystic fibrosis, familial dysautonomia, Fanconi anemia, and mucolipidosis type IV), and two diseases that are not necessarily disabling or routinely shorten the lifespan (Gaucher disease type I and DFNB1 sensorineural hearing loss).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP442396.RAqI-7uX2yUm3W6L5U5BdFwvL0VjCKsdS7KhJSCKqTaf4#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/NP442396.RAqI-7uX2yUm3W6L5U5BdFwvL0VjCKsdS7KhJSCKqTaf4#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/15775754
http://rdf.disgenet.org/resource/nanopub/NP442396.RAqI-7uX2yUm3W6L5U5BdFwvL0VjCKsdS7KhJSCKqTaf4#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP442396.RAqI-7uX2yUm3W6L5U5BdFwvL0VjCKsdS7KhJSCKqTaf4#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/NP442396.RAqI-7uX2yUm3W6L5U5BdFwvL0VjCKsdS7KhJSCKqTaf4#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP442396.RAqI-7uX2yUm3W6L5U5BdFwvL0VjCKsdS7KhJSCKqTaf4
http://purl.org/dc/terms/created
2017-10-17T13:12:59+02:00
http://rdf.disgenet.org/resource/nanopub/NP442396.RAqI-7uX2yUm3W6L5U5BdFwvL0VjCKsdS7KhJSCKqTaf4
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP442396.RAqI-7uX2yUm3W6L5U5BdFwvL0VjCKsdS7KhJSCKqTaf4
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP442396.RAqI-7uX2yUm3W6L5U5BdFwvL0VjCKsdS7KhJSCKqTaf4
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP442396.RAqI-7uX2yUm3W6L5U5BdFwvL0VjCKsdS7KhJSCKqTaf4
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP442396.RAqI-7uX2yUm3W6L5U5BdFwvL0VjCKsdS7KhJSCKqTaf4
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP442396.RAqI-7uX2yUm3W6L5U5BdFwvL0VjCKsdS7KhJSCKqTaf4
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP442396.RAqI-7uX2yUm3W6L5U5BdFwvL0VjCKsdS7KhJSCKqTaf4
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP442396.RAqI-7uX2yUm3W6L5U5BdFwvL0VjCKsdS7KhJSCKqTaf4
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP442396.RAqI-7uX2yUm3W6L5U5BdFwvL0VjCKsdS7KhJSCKqTaf4
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP442396.RAqI-7uX2yUm3W6L5U5BdFwvL0VjCKsdS7KhJSCKqTaf4
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP442396.RAqI-7uX2yUm3W6L5U5BdFwvL0VjCKsdS7KhJSCKqTaf4
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