http://rdf.disgenet.org/resource/nanopub/NP481560.RA1iuhFhZ_A5OvSH01XXA4MhM5Xj1mFuzeK06s_bQXmBc#head
http://rdf.disgenet.org/resource/nanopub/NP481560.RA1iuhFhZ_A5OvSH01XXA4MhM5Xj1mFuzeK06s_bQXmBc
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP481560.RA1iuhFhZ_A5OvSH01XXA4MhM5Xj1mFuzeK06s_bQXmBc#assertion
http://rdf.disgenet.org/resource/nanopub/NP481560.RA1iuhFhZ_A5OvSH01XXA4MhM5Xj1mFuzeK06s_bQXmBc
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP481560.RA1iuhFhZ_A5OvSH01XXA4MhM5Xj1mFuzeK06s_bQXmBc#provenance
http://rdf.disgenet.org/resource/nanopub/NP481560.RA1iuhFhZ_A5OvSH01XXA4MhM5Xj1mFuzeK06s_bQXmBc
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP481560.RA1iuhFhZ_A5OvSH01XXA4MhM5Xj1mFuzeK06s_bQXmBc#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP481560.RA1iuhFhZ_A5OvSH01XXA4MhM5Xj1mFuzeK06s_bQXmBc
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP481560.RA1iuhFhZ_A5OvSH01XXA4MhM5Xj1mFuzeK06s_bQXmBc#assertion
http://rdf.disgenet.org/resource/gda/DGNa255380d80690ee641c0557165e3e69c
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/3073
http://rdf.disgenet.org/resource/gda/DGNa255380d80690ee641c0557165e3e69c
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C1848922
http://rdf.disgenet.org/resource/gda/DGNa255380d80690ee641c0557165e3e69c
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001121
http://rdf.disgenet.org/resource/nanopub/NP481560.RA1iuhFhZ_A5OvSH01XXA4MhM5Xj1mFuzeK06s_bQXmBc#provenance
http://rdf.disgenet.org/resource/nanopub/NP481560.RA1iuhFhZ_A5OvSH01XXA4MhM5Xj1mFuzeK06s_bQXmBc#assertion
http://purl.org/dc/terms/description
[Genetic mutations have been identified in the major motor neuron diseases, including ALS, spinal muscular atrophy, bulbospinal muscular atrophy (Kennedy's disease), the hereditary spastic paraplegias, and rarer conditions such as GM2 gangliosidosis (hexosaminidase A deficiency).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP481560.RA1iuhFhZ_A5OvSH01XXA4MhM5Xj1mFuzeK06s_bQXmBc#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/NP481560.RA1iuhFhZ_A5OvSH01XXA4MhM5Xj1mFuzeK06s_bQXmBc#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/11460829
http://rdf.disgenet.org/resource/nanopub/NP481560.RA1iuhFhZ_A5OvSH01XXA4MhM5Xj1mFuzeK06s_bQXmBc#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP481560.RA1iuhFhZ_A5OvSH01XXA4MhM5Xj1mFuzeK06s_bQXmBc#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/NP481560.RA1iuhFhZ_A5OvSH01XXA4MhM5Xj1mFuzeK06s_bQXmBc#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP481560.RA1iuhFhZ_A5OvSH01XXA4MhM5Xj1mFuzeK06s_bQXmBc
http://purl.org/dc/terms/created
2017-10-17T13:13:14+02:00
http://rdf.disgenet.org/resource/nanopub/NP481560.RA1iuhFhZ_A5OvSH01XXA4MhM5Xj1mFuzeK06s_bQXmBc
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP481560.RA1iuhFhZ_A5OvSH01XXA4MhM5Xj1mFuzeK06s_bQXmBc
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP481560.RA1iuhFhZ_A5OvSH01XXA4MhM5Xj1mFuzeK06s_bQXmBc
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP481560.RA1iuhFhZ_A5OvSH01XXA4MhM5Xj1mFuzeK06s_bQXmBc
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP481560.RA1iuhFhZ_A5OvSH01XXA4MhM5Xj1mFuzeK06s_bQXmBc
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP481560.RA1iuhFhZ_A5OvSH01XXA4MhM5Xj1mFuzeK06s_bQXmBc
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP481560.RA1iuhFhZ_A5OvSH01XXA4MhM5Xj1mFuzeK06s_bQXmBc
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP481560.RA1iuhFhZ_A5OvSH01XXA4MhM5Xj1mFuzeK06s_bQXmBc
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP481560.RA1iuhFhZ_A5OvSH01XXA4MhM5Xj1mFuzeK06s_bQXmBc
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP481560.RA1iuhFhZ_A5OvSH01XXA4MhM5Xj1mFuzeK06s_bQXmBc
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP481560.RA1iuhFhZ_A5OvSH01XXA4MhM5Xj1mFuzeK06s_bQXmBc
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