http://rdf.disgenet.org/nanopublications.trig#NP13795.RAyd9t2XJbbhKAZ59ZabqWAD1z_qgby6Pp5GH8VkeFycU130_head
http://rdf.disgenet.org/nanopublications.trig#NP13795.RAyd9t2XJbbhKAZ59ZabqWAD1z_qgby6Pp5GH8VkeFycU
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/nanopublications.trig#NP13795.RAyd9t2XJbbhKAZ59ZabqWAD1z_qgby6Pp5GH8VkeFycU130_assertion
http://rdf.disgenet.org/nanopublications.trig#NP13795.RAyd9t2XJbbhKAZ59ZabqWAD1z_qgby6Pp5GH8VkeFycU
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/nanopublications.trig#NP13795.RAyd9t2XJbbhKAZ59ZabqWAD1z_qgby6Pp5GH8VkeFycU130_provenance
http://rdf.disgenet.org/nanopublications.trig#NP13795.RAyd9t2XJbbhKAZ59ZabqWAD1z_qgby6Pp5GH8VkeFycU
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/nanopublications.trig#NP13795.RAyd9t2XJbbhKAZ59ZabqWAD1z_qgby6Pp5GH8VkeFycU130_publicationInfo
http://rdf.disgenet.org/nanopublications.trig#NP13795.RAyd9t2XJbbhKAZ59ZabqWAD1z_qgby6Pp5GH8VkeFycU
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/nanopublications.trig#NP13795.RAyd9t2XJbbhKAZ59ZabqWAD1z_qgby6Pp5GH8VkeFycU130_assertion
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Assertion
http://rdf.disgenet.org/nanopublications.trig#NP13795.RAyd9t2XJbbhKAZ59ZabqWAD1z_qgby6Pp5GH8VkeFycU130_provenance
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Provenance
http://rdf.disgenet.org/nanopublications.trig#NP13795.RAyd9t2XJbbhKAZ59ZabqWAD1z_qgby6Pp5GH8VkeFycU130_publicationInfo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#PublicationInfo
http://rdf.disgenet.org/nanopublications.trig#NP13795.RAyd9t2XJbbhKAZ59ZabqWAD1z_qgby6Pp5GH8VkeFycU130_assertion
http://identifiers.org/ncbigene/1717
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/C0175694
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/gene-disease-association.ttl#DGN6ad91b63cd81566eb5d35730a8a57ba4
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/1717
http://rdf.disgenet.org/gene-disease-association.ttl#DGN6ad91b63cd81566eb5d35730a8a57ba4
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0175694
http://rdf.disgenet.org/gene-disease-association.ttl#DGN6ad91b63cd81566eb5d35730a8a57ba4
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001121
http://rdf.disgenet.org/nanopublications.trig#NP13795.RAyd9t2XJbbhKAZ59ZabqWAD1z_qgby6Pp5GH8VkeFycU130_provenance
http://rdf.disgenet.org/nanopublications.trig#NP13795.RAyd9t2XJbbhKAZ59ZabqWAD1z_qgby6Pp5GH8VkeFycU130_assertion
http://purl.org/dc/terms/description
[Smith-Lemli-Opitz syndrome (SLOS) is a severe developmental disorder caused by mutations in the DHCR7 gene coding for 7-dehydrocholesterol (7-DHC) reductase, the enzyme involved in the last step of cholesterol biosynthesis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/nanopublications.trig#NP13795.RAyd9t2XJbbhKAZ59ZabqWAD1z_qgby6Pp5GH8VkeFycU130_assertion
http://purl.org/ontology/wi/core#evidence
http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_curated
http://rdf.disgenet.org/nanopublications.trig#NP13795.RAyd9t2XJbbhKAZ59ZabqWAD1z_qgby6Pp5GH8VkeFycU130_assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/16814115
http://rdf.disgenet.org/nanopublications.trig#NP13795.RAyd9t2XJbbhKAZ59ZabqWAD1z_qgby6Pp5GH8VkeFycU130_assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v2.1.0/void.ttl#ctd_human-20130708
http://rdf.disgenet.org/nanopublications.trig#NP13795.RAyd9t2XJbbhKAZ59ZabqWAD1z_qgby6Pp5GH8VkeFycU130_assertion
http://www.w3.org/ns/prov#wasGeneratedBy
http://purl.obolibrary.org/obo/eco.owl#ECO_0000218
http://rdf.disgenet.org/v2.1.0/void.ttl#ctd_human-20130708
http://purl.org/pav/2.0/importedOn
2013-07-24
http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_curated
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.obolibrary.org/obo/eco.owl#ECO_0000205
http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_curated
http://www.w3.org/2000/01/rdf-schema#comment
Gene-disease associations manually curated.
http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_curated
http://www.w3.org/2000/01/rdf-schema#label
DisGeNET evidence - CURATED
http://rdf.disgenet.org/nanopublications.trig#NP13795.RAyd9t2XJbbhKAZ59ZabqWAD1z_qgby6Pp5GH8VkeFycU130_publicationInfo
http://rdf.disgenet.org/nanopublications.trig#NP13795.RAyd9t2XJbbhKAZ59ZabqWAD1z_qgby6Pp5GH8VkeFycU
http://purl.org/dc/terms/created
2014-10-02T12:32:04+02:00
http://rdf.disgenet.org/nanopublications.trig#NP13795.RAyd9t2XJbbhKAZ59ZabqWAD1z_qgby6Pp5GH8VkeFycU
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/nanopublications.trig#NP13795.RAyd9t2XJbbhKAZ59ZabqWAD1z_qgby6Pp5GH8VkeFycU
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup
http://rdf.disgenet.org/nanopublications.trig#NP13795.RAyd9t2XJbbhKAZ59ZabqWAD1z_qgby6Pp5GH8VkeFycU
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/nanopublications.trig#NP13795.RAyd9t2XJbbhKAZ59ZabqWAD1z_qgby6Pp5GH8VkeFycU
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf
http://rdf.disgenet.org/nanopublications.trig#NP13795.RAyd9t2XJbbhKAZ59ZabqWAD1z_qgby6Pp5GH8VkeFycU
http://purl.org/pav/2.0/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/nanopublications.trig#NP13795.RAyd9t2XJbbhKAZ59ZabqWAD1z_qgby6Pp5GH8VkeFycU
http://purl.org/pav/2.0/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/nanopublications.trig#NP13795.RAyd9t2XJbbhKAZ59ZabqWAD1z_qgby6Pp5GH8VkeFycU
http://purl.org/pav/2.0/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/nanopublications.trig#NP13795.RAyd9t2XJbbhKAZ59ZabqWAD1z_qgby6Pp5GH8VkeFycU
http://purl.org/pav/2.0/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/nanopublications.trig#NP13795.RAyd9t2XJbbhKAZ59ZabqWAD1z_qgby6Pp5GH8VkeFycU
http://purl.org/pav/2.0/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/nanopublications.trig#NP13795.RAyd9t2XJbbhKAZ59ZabqWAD1z_qgby6Pp5GH8VkeFycU
http://purl.org/pav/2.0/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/nanopublications.trig#NP13795.RAyd9t2XJbbhKAZ59ZabqWAD1z_qgby6Pp5GH8VkeFycU
http://purl.org/pav/2.0/version
v2.1.0.0
http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf
http://purl.org/pav/2.0/version
v2.1.0