@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP22186.RAdC8q_5qOb_97SM3QMfZ7i5V9LbrVc4MwizdH-ARdYI4
> .
@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:NP22186.RAdC8q_5qOb_97SM3QMfZ7i5V9LbrVc4MwizdH-ARdYI4130_head
{
this:
np:hasAssertion
dgn-np:NP22186.RAdC8q_5qOb_97SM3QMfZ7i5V9LbrVc4MwizdH-ARdYI4130_assertion
;
np:hasProvenance
dgn-np:NP22186.RAdC8q_5qOb_97SM3QMfZ7i5V9LbrVc4MwizdH-ARdYI4130_provenance
;
np:hasPublicationInfo
dgn-np:NP22186.RAdC8q_5qOb_97SM3QMfZ7i5V9LbrVc4MwizdH-ARdYI4130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP22186.RAdC8q_5qOb_97SM3QMfZ7i5V9LbrVc4MwizdH-ARdYI4130_assertion
a
np:Assertion
.
dgn-np:NP22186.RAdC8q_5qOb_97SM3QMfZ7i5V9LbrVc4MwizdH-ARdYI4130_provenance
a
np:Provenance
.
dgn-np:NP22186.RAdC8q_5qOb_97SM3QMfZ7i5V9LbrVc4MwizdH-ARdYI4130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP22186.RAdC8q_5qOb_97SM3QMfZ7i5V9LbrVc4MwizdH-ARdYI4130_assertion
{
miriam-gene:4139
a
ncit:C16612
.
lld:C0004352
a
ncit:C7057
.
dgn-gda:DGNc1c95d7c86557072b8b15d5811e2d9fd
sio:SIO_000628
miriam-gene:4139
,
lld:C0004352
;
a
sio:SIO_001121
.
}
dgn-np:NP22186.RAdC8q_5qOb_97SM3QMfZ7i5V9LbrVc4MwizdH-ARdYI4130_provenance
{
dgn-np:NP22186.RAdC8q_5qOb_97SM3QMfZ7i5V9LbrVc4MwizdH-ARdYI4130_assertion
dcterms:description
"[High-resolution single-nucleotide polymorphisms (126 SNPs) genotyping across the chromosome 1q41-q42 region, followed by a MARK1 (microtubule affinity-regulating kinase 1)-tagged-SNP association study in 276 families with autism from the Autism Genetic Research Exchange, showed that several SNPs within the MARK1 gene were significantly associated with ASDs by transmission disequilibrium tests.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_curated
;
sio:SIO_000772
miriam-pubmed:18492799
;
prov:wasDerivedFrom
dgn-void:ctd_human-20130708
;
prov:wasGeneratedBy
eco:ECO_0000218
.
dgn-void:ctd_human-20130708
pav:importedOn
"2013-07-24"^^
xsd:date
.
dgn-void:source_evidence_curated
a
eco:ECO_0000205
;
rdfs:comment
"Gene-disease associations manually curated."@en ;
rdfs:label
"DisGeNET evidence - CURATED"@en .
}
dgn-np:NP22186.RAdC8q_5qOb_97SM3QMfZ7i5V9LbrVc4MwizdH-ARdYI4130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:32:08+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" .
}