@prefix this: . @prefix rdfs: . @prefix xsd: . @prefix sio: . @prefix ncit: . @prefix lld: . @prefix miriam-gene: . @prefix miriam-pubmed: . @prefix eco: . @prefix wi: . @prefix prov: . @prefix pav: . @prefix prv: . @prefix dcterms: . @prefix np: . @prefix dgn-np: . @prefix dgn-gda: . @prefix dgn-void: . dgn-np:NP346859.RAAne4T5J41trxhqXRxRcBLmgnffiahHmTV4Ysh1spyo8130_head { this: np:hasAssertion dgn-np:NP346859.RAAne4T5J41trxhqXRxRcBLmgnffiahHmTV4Ysh1spyo8130_assertion; np:hasProvenance dgn-np:NP346859.RAAne4T5J41trxhqXRxRcBLmgnffiahHmTV4Ysh1spyo8130_provenance; np:hasPublicationInfo dgn-np:NP346859.RAAne4T5J41trxhqXRxRcBLmgnffiahHmTV4Ysh1spyo8130_publicationInfo; a np:Nanopublication . dgn-np:NP346859.RAAne4T5J41trxhqXRxRcBLmgnffiahHmTV4Ysh1spyo8130_assertion a np:Assertion . dgn-np:NP346859.RAAne4T5J41trxhqXRxRcBLmgnffiahHmTV4Ysh1spyo8130_provenance a np:Provenance . dgn-np:NP346859.RAAne4T5J41trxhqXRxRcBLmgnffiahHmTV4Ysh1spyo8130_publicationInfo a np:PublicationInfo . } dgn-np:NP346859.RAAne4T5J41trxhqXRxRcBLmgnffiahHmTV4Ysh1spyo8130_assertion { miriam-gene:1605 a ncit:C16612 . lld:C0686353 a ncit:C7057 . dgn-gda:DGNb4d14b9368ed004547558980d27b7a98 sio:SIO_000628 miriam-gene:1605, lld:C0686353; a sio:SIO_001121 . } dgn-np:NP346859.RAAne4T5J41trxhqXRxRcBLmgnffiahHmTV4Ysh1spyo8130_provenance { dgn-np:NP346859.RAAne4T5J41trxhqXRxRcBLmgnffiahHmTV4Ysh1spyo8130_assertion dcterms:description "[Genes for Walker Warburg syndrome, muscle-eye-brain disease, Fukuyama congenital muscular dystrophy, congenital muscular dystrophy 1C and 1D, and limb girdle muscular dystrophy 21 have been identified, and gene mutations resulting in these diseases all cause the underglycosylation of alpha dystroglycan with O-linked carbohydrates.]. 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:16584074; 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:NP346859.RAAne4T5J41trxhqXRxRcBLmgnffiahHmTV4Ysh1spyo8130_publicationInfo { this: dcterms:created "2015-08-25T14:40:59+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetv3.0rdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v3.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v3.0.0" . }