@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP214437.RAqbWeUTCCwWE82qZgNryXd_ptTrigtL-DeQ_mBhhGteo
> .
@prefix rdfs: <
http://www.w3.org/2000/01/rdf-schema#
> .
@prefix xsd: <
http://www.w3.org/2001/XMLSchema#
> .
@prefix sio: <
http://semanticscience.org/resource/
> .
@prefix ncit: <
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#
> .
@prefix lld: <
http://linkedlifedata.com/resource/umls/id/
> .
@prefix miriam-gene: <
http://identifiers.org/ncbigene/
> .
@prefix miriam-pubmed: <
http://identifiers.org/pubmed/
> .
@prefix eco: <
http://purl.obolibrary.org/obo/eco.owl#
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/2.0/
> .
@prefix prv: <
http://purl.org/net/provenance/ns#
> .
@prefix dcterms: <
http://purl.org/dc/terms/
> .
@prefix np: <
http://www.nanopub.org/nschema#
> .
@prefix dgn-np: <
http://rdf.disgenet.org/nanopublications.trig#
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/gene-disease-association.ttl#
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v2.1.0/void.ttl#
> .
dgn-np:NP214437.RAqbWeUTCCwWE82qZgNryXd_ptTrigtL-DeQ_mBhhGteo130_head
{
this:
np:hasAssertion
dgn-np:NP214437.RAqbWeUTCCwWE82qZgNryXd_ptTrigtL-DeQ_mBhhGteo130_assertion
;
np:hasProvenance
dgn-np:NP214437.RAqbWeUTCCwWE82qZgNryXd_ptTrigtL-DeQ_mBhhGteo130_provenance
;
np:hasPublicationInfo
dgn-np:NP214437.RAqbWeUTCCwWE82qZgNryXd_ptTrigtL-DeQ_mBhhGteo130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP214437.RAqbWeUTCCwWE82qZgNryXd_ptTrigtL-DeQ_mBhhGteo130_assertion
a
np:Assertion
.
dgn-np:NP214437.RAqbWeUTCCwWE82qZgNryXd_ptTrigtL-DeQ_mBhhGteo130_provenance
a
np:Provenance
.
dgn-np:NP214437.RAqbWeUTCCwWE82qZgNryXd_ptTrigtL-DeQ_mBhhGteo130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP214437.RAqbWeUTCCwWE82qZgNryXd_ptTrigtL-DeQ_mBhhGteo130_assertion
{
miriam-gene:4935
a
ncit:C16612
.
lld:C0001916
a
ncit:C7057
.
dgn-gda:DGNafb3ced1af46dd9071b8f030e577fb16
sio:SIO_000628
miriam-gene:4935
,
lld:C0001916
;
a
sio:SIO_001121
.
}
dgn-np:NP214437.RAqbWeUTCCwWE82qZgNryXd_ptTrigtL-DeQ_mBhhGteo130_provenance
{
dgn-np:NP214437.RAqbWeUTCCwWE82qZgNryXd_ptTrigtL-DeQ_mBhhGteo130_assertion
dcterms:description
"[We hypothesise that macular hypoplasia in all forms of albinism depends on the extracellular DOPA level during embryogenesis, and that in OA1 postnatal normalisation of the extracellular DOPA level due to delayed distribution and membrane budding/fusion of melanosomes in melanocytes results in increasing pigmentation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_literature
;
sio:SIO_000772
miriam-pubmed:11520764
;
prov:wasDerivedFrom
dgn-void:befree-20140225
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20140225
pav:importedOn
"2014-02-25"^^
xsd:date
.
dgn-void:source_evidence_literature
a
eco:ECO_0000212
;
rdfs:comment
"Gene-disease associations inferred from text-mining the literature."@en ;
rdfs:label
"DisGeNET evidence - LITERATURE"@en .
}
dgn-np:NP214437.RAqbWeUTCCwWE82qZgNryXd_ptTrigtL-DeQ_mBhhGteo130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:33:59+02:00"^^
xsd:dateTime
;
dcterms:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dcterms:rightsHolder
dgn-void:IBIGroup
;
dcterms:subject
sio:SIO_000983
;
prv:usedData
dgn-void:disgenetrdf
;
pav:authoredBy
<
http://orcid.org/0000-0001-5999-6269
> , <
http://orcid.org/0000-0002-7534-7661
> , <
http://orcid.org/0000-0002-9383-528X
> , <
http://orcid.org/0000-0003-0169-8159
> , <
http://orcid.org/0000-0003-1244-7654
> ;
pav:createdBy
<
http://orcid.org/0000-0003-0169-8159
> ;
pav:version
"v2.1.0.0" .
dgn-void:disgenetrdf
pav:version
"v2.1.0" .
}