@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP71125.RAPnkhiIIi_nn3FQeNFOQ_U-TegVQTbl-le6ubDbaYgBw
> .
@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:NP71125.RAPnkhiIIi_nn3FQeNFOQ_U-TegVQTbl-le6ubDbaYgBw130_head
{
this:
np:hasAssertion
dgn-np:NP71125.RAPnkhiIIi_nn3FQeNFOQ_U-TegVQTbl-le6ubDbaYgBw130_assertion
;
np:hasProvenance
dgn-np:NP71125.RAPnkhiIIi_nn3FQeNFOQ_U-TegVQTbl-le6ubDbaYgBw130_provenance
;
np:hasPublicationInfo
dgn-np:NP71125.RAPnkhiIIi_nn3FQeNFOQ_U-TegVQTbl-le6ubDbaYgBw130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP71125.RAPnkhiIIi_nn3FQeNFOQ_U-TegVQTbl-le6ubDbaYgBw130_assertion
a
np:Assertion
.
dgn-np:NP71125.RAPnkhiIIi_nn3FQeNFOQ_U-TegVQTbl-le6ubDbaYgBw130_provenance
a
np:Provenance
.
dgn-np:NP71125.RAPnkhiIIi_nn3FQeNFOQ_U-TegVQTbl-le6ubDbaYgBw130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP71125.RAPnkhiIIi_nn3FQeNFOQ_U-TegVQTbl-le6ubDbaYgBw130_assertion
{
miriam-gene:2592
a
ncit:C16612
.
lld:C0016952
a
ncit:C7057
.
dgn-gda:DGNbd611c41f093220760f83872fb40c3c0
sio:SIO_000628
miriam-gene:2592
,
lld:C0016952
;
a
sio:SIO_001122
.
}
dgn-np:NP71125.RAPnkhiIIi_nn3FQeNFOQ_U-TegVQTbl-le6ubDbaYgBw130_provenance
{
dgn-np:NP71125.RAPnkhiIIi_nn3FQeNFOQ_U-TegVQTbl-le6ubDbaYgBw130_assertion
dcterms:description
"[Based upon the gene frequency of the Q188R mutation in the White population, the birth incidence of classic galactosemia is estimated at one patient per 47,000 in the White population. This prevalence would be increased by inbreeding. It agrees well with ]. 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:11511927
;
prov:wasDerivedFrom
dgn-void:gad-20150221
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:gad-20150221
pav:importedOn
"2015-02-21"^^
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:NP71125.RAPnkhiIIi_nn3FQeNFOQ_U-TegVQTbl-le6ubDbaYgBw130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:42:20+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" .
}