@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1343434.RAYG8aMV_C4qA3rJjeXpXKKiNAmY7y_REhk7csgjMQp_k
> .
@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/
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/
> .
@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/resource/nanopub/
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v4.0.0/void/
> .
dgn-np:NP1343434.RAYG8aMV_C4qA3rJjeXpXKKiNAmY7y_REhk7csgjMQp_k130_head
{
this:
np:hasAssertion
dgn-np:NP1343434.RAYG8aMV_C4qA3rJjeXpXKKiNAmY7y_REhk7csgjMQp_k130_assertion
;
np:hasProvenance
dgn-np:NP1343434.RAYG8aMV_C4qA3rJjeXpXKKiNAmY7y_REhk7csgjMQp_k130_provenance
;
np:hasPublicationInfo
dgn-np:NP1343434.RAYG8aMV_C4qA3rJjeXpXKKiNAmY7y_REhk7csgjMQp_k130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1343434.RAYG8aMV_C4qA3rJjeXpXKKiNAmY7y_REhk7csgjMQp_k130_assertion
a
np:Assertion
.
dgn-np:NP1343434.RAYG8aMV_C4qA3rJjeXpXKKiNAmY7y_REhk7csgjMQp_k130_provenance
a
np:Provenance
.
dgn-np:NP1343434.RAYG8aMV_C4qA3rJjeXpXKKiNAmY7y_REhk7csgjMQp_k130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1343434.RAYG8aMV_C4qA3rJjeXpXKKiNAmY7y_REhk7csgjMQp_k130_assertion
{
miriam-gene:7450
a
ncit:C16612
.
lld:C0684275
a
ncit:C7057
.
dgn-gda:DGNc6921c72bedbf83bfcea2739f9f17cde
sio:SIO_000628
miriam-gene:7450
,
lld:C0684275
;
a
sio:SIO_001121
.
}
dgn-np:NP1343434.RAYG8aMV_C4qA3rJjeXpXKKiNAmY7y_REhk7csgjMQp_k130_provenance
{
dgn-np:NP1343434.RAYG8aMV_C4qA3rJjeXpXKKiNAmY7y_REhk7csgjMQp_k130_assertion
dcterms:description
"[The family we describe demonstrates the recessive inheritance of a recently recognized class of genetic bleeding disorders, we call autosomal hemophilia. We conclude that vWF mutation may be an under recognized cause of hemophilia, especially in cases where the inheritance pattern is not consistent with X-linked transmission.]. 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:8500791
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP1343434.RAYG8aMV_C4qA3rJjeXpXKKiNAmY7y_REhk7csgjMQp_k130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:51:55+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:disgenetv3.0rdf
;
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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}