@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP681234.RAfHoTvqTm-bO0iGxLU0M6jiCiaQxF2_m_FTVmjB73FC8> .
@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/v3.0.0/void/> .

dgn-np:NP681234.RAfHoTvqTm-bO0iGxLU0M6jiCiaQxF2_m_FTVmjB73FC8130_head {
  this: np:hasAssertion dgn-np:NP681234.RAfHoTvqTm-bO0iGxLU0M6jiCiaQxF2_m_FTVmjB73FC8130_assertion;
    np:hasProvenance dgn-np:NP681234.RAfHoTvqTm-bO0iGxLU0M6jiCiaQxF2_m_FTVmjB73FC8130_provenance;
    np:hasPublicationInfo dgn-np:NP681234.RAfHoTvqTm-bO0iGxLU0M6jiCiaQxF2_m_FTVmjB73FC8130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP681234.RAfHoTvqTm-bO0iGxLU0M6jiCiaQxF2_m_FTVmjB73FC8130_assertion a np:Assertion .
  
  dgn-np:NP681234.RAfHoTvqTm-bO0iGxLU0M6jiCiaQxF2_m_FTVmjB73FC8130_provenance a np:Provenance .
  
  dgn-np:NP681234.RAfHoTvqTm-bO0iGxLU0M6jiCiaQxF2_m_FTVmjB73FC8130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP681234.RAfHoTvqTm-bO0iGxLU0M6jiCiaQxF2_m_FTVmjB73FC8130_assertion {
  miriam-gene:6303 a ncit:C16612 .
  
  lld:C0343057 a ncit:C7057 .
  
  dgn-gda:DGN830db49eea953d32bf0a942d09e2c35c sio:SIO_000628 miriam-gene:6303, lld:C0343057;
    a sio:SIO_001121 .
}

dgn-np:NP681234.RAfHoTvqTm-bO0iGxLU0M6jiCiaQxF2_m_FTVmjB73FC8130_provenance {
  dgn-np:NP681234.RAfHoTvqTm-bO0iGxLU0M6jiCiaQxF2_m_FTVmjB73FC8130_assertion dcterms:description
      "[Mutations in MBTPS2 have been reported to cause a broad phenotypic spectrum of X-linked genodermatoses, including IFAP (ichthyosis follicularis; atrichia and photophobia) syndrome (OMIM 308205) with or without BRESHECK (brain anomalies, retardation of mentality and growth, ectodermal dysplasia, skeletal malformations, Hirschsprung disease, ear deformity and deafness, eye hypoplasia, cleft palate, cryptorchidism, and kidney dysplasia/hypoplasia) syndrome, keratosis follicularis spinulosa decalvans (KFSD; OMIM 308800) and an X-linked form of Olmsted syndrome.]. 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:24313295;
    prov:wasDerivedFrom dgn-void:befree-20150227;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^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:NP681234.RAfHoTvqTm-bO0iGxLU0M6jiCiaQxF2_m_FTVmjB73FC8130_publicationInfo {
  this: dcterms:created "2015-08-25T14:44:30+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 "v3.0.0.0" .
  
  dgn-void:disgenetv3.0rdf pav:version "v3.0.0" .
}