@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:NP577598.RA-kY_lrOLMSubP929r7ftOz4L4YwiEkm0Di84qGTyVS8130_head { this: np:hasAssertion dgn-np:NP577598.RA-kY_lrOLMSubP929r7ftOz4L4YwiEkm0Di84qGTyVS8130_assertion; np:hasProvenance dgn-np:NP577598.RA-kY_lrOLMSubP929r7ftOz4L4YwiEkm0Di84qGTyVS8130_provenance; np:hasPublicationInfo dgn-np:NP577598.RA-kY_lrOLMSubP929r7ftOz4L4YwiEkm0Di84qGTyVS8130_publicationInfo; a np:Nanopublication . dgn-np:NP577598.RA-kY_lrOLMSubP929r7ftOz4L4YwiEkm0Di84qGTyVS8130_assertion a np:Assertion . dgn-np:NP577598.RA-kY_lrOLMSubP929r7ftOz4L4YwiEkm0Di84qGTyVS8130_provenance a np:Provenance . dgn-np:NP577598.RA-kY_lrOLMSubP929r7ftOz4L4YwiEkm0Di84qGTyVS8130_publicationInfo a np:PublicationInfo . } dgn-np:NP577598.RA-kY_lrOLMSubP929r7ftOz4L4YwiEkm0Di84qGTyVS8130_assertion { miriam-gene:249 a ncit:C16612 . lld:C1840392 a ncit:C7057 . dgn-gda:DGNe9452b926768adc86bce1eabcc27555c sio:SIO_000628 miriam-gene:249, lld:C1840392; a sio:SIO_001121 . } dgn-np:NP577598.RA-kY_lrOLMSubP929r7ftOz4L4YwiEkm0Di84qGTyVS8130_provenance { dgn-np:NP577598.RA-kY_lrOLMSubP929r7ftOz4L4YwiEkm0Di84qGTyVS8130_assertion dcterms:description "[Hypophosphatasia (HPP) is an inherited disorder characterised by defective bone and tooth mineralisation and deficient serum and bone alkaline phosphatase activity, and it results from mutations in alkaline phosphatase (ALPL) encoding tissue-nonspecific alkaline phosphatase (TNAP).]. 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:20828673; prov:wasDerivedFrom dgn-void:befree-20140225; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^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:NP577598.RA-kY_lrOLMSubP929r7ftOz4L4YwiEkm0Di84qGTyVS8130_publicationInfo { this: dcterms:created "2014-10-02T12:37:48+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms: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" . }