http://rdf.disgenet.org/resource/nanopub/NP442968.RAaKDcopC_wkZPUHgm1sFnK554JqRRRYZvBv0G91UNLoc#head
http://rdf.disgenet.org/resource/nanopub/NP442968.RAaKDcopC_wkZPUHgm1sFnK554JqRRRYZvBv0G91UNLoc
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP442968.RAaKDcopC_wkZPUHgm1sFnK554JqRRRYZvBv0G91UNLoc#assertion
http://rdf.disgenet.org/resource/nanopub/NP442968.RAaKDcopC_wkZPUHgm1sFnK554JqRRRYZvBv0G91UNLoc
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP442968.RAaKDcopC_wkZPUHgm1sFnK554JqRRRYZvBv0G91UNLoc#provenance
http://rdf.disgenet.org/resource/nanopub/NP442968.RAaKDcopC_wkZPUHgm1sFnK554JqRRRYZvBv0G91UNLoc
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP442968.RAaKDcopC_wkZPUHgm1sFnK554JqRRRYZvBv0G91UNLoc#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP442968.RAaKDcopC_wkZPUHgm1sFnK554JqRRRYZvBv0G91UNLoc
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP442968.RAaKDcopC_wkZPUHgm1sFnK554JqRRRYZvBv0G91UNLoc#assertion
http://rdf.disgenet.org/resource/gda/DGNe7eb90f2dbac860f65436a1de5cdaf1a
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/2706
http://rdf.disgenet.org/resource/gda/DGNe7eb90f2dbac860f65436a1de5cdaf1a
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0039373
http://rdf.disgenet.org/resource/gda/DGNe7eb90f2dbac860f65436a1de5cdaf1a
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP442968.RAaKDcopC_wkZPUHgm1sFnK554JqRRRYZvBv0G91UNLoc#provenance
http://rdf.disgenet.org/resource/nanopub/NP442968.RAaKDcopC_wkZPUHgm1sFnK554JqRRRYZvBv0G91UNLoc#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/NP442968.RAaKDcopC_wkZPUHgm1sFnK554JqRRRYZvBv0G91UNLoc#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/NP442968.RAaKDcopC_wkZPUHgm1sFnK554JqRRRYZvBv0G91UNLoc#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/15775754
http://rdf.disgenet.org/resource/nanopub/NP442968.RAaKDcopC_wkZPUHgm1sFnK554JqRRRYZvBv0G91UNLoc#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP442968.RAaKDcopC_wkZPUHgm1sFnK554JqRRRYZvBv0G91UNLoc#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/NP442968.RAaKDcopC_wkZPUHgm1sFnK554JqRRRYZvBv0G91UNLoc#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP442968.RAaKDcopC_wkZPUHgm1sFnK554JqRRRYZvBv0G91UNLoc
http://purl.org/dc/terms/created
2017-10-17T13:13:00+02:00
http://rdf.disgenet.org/resource/nanopub/NP442968.RAaKDcopC_wkZPUHgm1sFnK554JqRRRYZvBv0G91UNLoc
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP442968.RAaKDcopC_wkZPUHgm1sFnK554JqRRRYZvBv0G91UNLoc
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP442968.RAaKDcopC_wkZPUHgm1sFnK554JqRRRYZvBv0G91UNLoc
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP442968.RAaKDcopC_wkZPUHgm1sFnK554JqRRRYZvBv0G91UNLoc
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP442968.RAaKDcopC_wkZPUHgm1sFnK554JqRRRYZvBv0G91UNLoc
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP442968.RAaKDcopC_wkZPUHgm1sFnK554JqRRRYZvBv0G91UNLoc
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP442968.RAaKDcopC_wkZPUHgm1sFnK554JqRRRYZvBv0G91UNLoc
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP442968.RAaKDcopC_wkZPUHgm1sFnK554JqRRRYZvBv0G91UNLoc
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP442968.RAaKDcopC_wkZPUHgm1sFnK554JqRRRYZvBv0G91UNLoc
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP442968.RAaKDcopC_wkZPUHgm1sFnK554JqRRRYZvBv0G91UNLoc
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP442968.RAaKDcopC_wkZPUHgm1sFnK554JqRRRYZvBv0G91UNLoc
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