@prefix dc: . @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 np: . @prefix dgn-np: . @prefix dgn-gda: . @prefix dgn-void: . dgn-np:NP4102.RANEyfaE0RNWk3JHtzdxmIecK_F5UyVzL11dS1GnS_v8k130_head { this: np:hasAssertion dgn-np:NP4102.RANEyfaE0RNWk3JHtzdxmIecK_F5UyVzL11dS1GnS_v8k130_assertion; np:hasProvenance dgn-np:NP4102.RANEyfaE0RNWk3JHtzdxmIecK_F5UyVzL11dS1GnS_v8k130_provenance; np:hasPublicationInfo dgn-np:NP4102.RANEyfaE0RNWk3JHtzdxmIecK_F5UyVzL11dS1GnS_v8k130_publicationInfo; a np:Nanopublication . dgn-np:NP4102.RANEyfaE0RNWk3JHtzdxmIecK_F5UyVzL11dS1GnS_v8k130_assertion a np:Assertion . dgn-np:NP4102.RANEyfaE0RNWk3JHtzdxmIecK_F5UyVzL11dS1GnS_v8k130_provenance a np:Provenance . dgn-np:NP4102.RANEyfaE0RNWk3JHtzdxmIecK_F5UyVzL11dS1GnS_v8k130_publicationInfo a np:PublicationInfo . } dgn-np:NP4102.RANEyfaE0RNWk3JHtzdxmIecK_F5UyVzL11dS1GnS_v8k130_assertion { miriam-gene:9526 a ncit:C16612 . lld:C1836669 a ncit:C7057 . dgn-gda:DGNf298410390c9d6d0d61dd16bbf2d4dcd sio:SIO_000628 miriam-gene:9526, lld:C1836669; a sio:SIO_001122 . } dgn-np:NP4102.RANEyfaE0RNWk3JHtzdxmIecK_F5UyVzL11dS1GnS_v8k130_provenance { dgn-np:NP4102.RANEyfaE0RNWk3JHtzdxmIecK_F5UyVzL11dS1GnS_v8k130_assertion dc:description "[A mutation in the human MPDU1 gene causes congenital disorder of glycosylation type If (CDG-If).]. 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:11733556; prov:wasDerivedFrom dgn-void:uniprot-20130724; prov:wasGeneratedBy eco:ECO_0000218 . dgn-void:source_evidence_curated a eco:ECO_0000205; rdfs:comment "Gene-disease associations manually curated."@en; rdfs:label "DisGeNET evidence - CURATED"@en . dgn-void:uniprot-20130724 pav:importedOn "2013-07-24"^^xsd:date . } dgn-np:NP4102.RANEyfaE0RNWk3JHtzdxmIecK_F5UyVzL11dS1GnS_v8k130_publicationInfo { this: dc:created "2014-10-02T12:31:59+02:00"^^xsd:dateTime; dc:rights ; dc:rightsHolder dgn-void:IBIGroup; dc:subject sio:SIO_000983; prv:usedData dgn-void:disgenetrdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v2.1.0.0" . dgn-void:disgenetrdf pav:version "v2.1.0" . }