@prefix dc: . @prefix orcid: . @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:NP1620.RAblXGCyNNxZjh5tUSMF4FX7bOyFuXyhjbM2LLCm-igDU130_head { this: np:hasAssertion dgn-np:NP1620.RAblXGCyNNxZjh5tUSMF4FX7bOyFuXyhjbM2LLCm-igDU130_assertion; np:hasProvenance dgn-np:NP1620.RAblXGCyNNxZjh5tUSMF4FX7bOyFuXyhjbM2LLCm-igDU130_provenance; np:hasPublicationInfo dgn-np:NP1620.RAblXGCyNNxZjh5tUSMF4FX7bOyFuXyhjbM2LLCm-igDU130_publicationInfo; a np:Nanopublication . dgn-np:NP1620.RAblXGCyNNxZjh5tUSMF4FX7bOyFuXyhjbM2LLCm-igDU130_assertion a np:Assertion . dgn-np:NP1620.RAblXGCyNNxZjh5tUSMF4FX7bOyFuXyhjbM2LLCm-igDU130_provenance a np:Provenance . dgn-np:NP1620.RAblXGCyNNxZjh5tUSMF4FX7bOyFuXyhjbM2LLCm-igDU130_publicationInfo a np:PublicationInfo . } dgn-np:NP1620.RAblXGCyNNxZjh5tUSMF4FX7bOyFuXyhjbM2LLCm-igDU130_assertion { miriam-gene:210 a ncit:C16612 . lld:C0268328 a ncit:C7057 . dgn-gda:DGNdb6e1cc8acd868746c61b4edc4c460e2 sio:SIO_000628 miriam-gene:210, lld:C0268328; a sio:SIO_001122 . } dgn-np:NP1620.RAblXGCyNNxZjh5tUSMF4FX7bOyFuXyhjbM2LLCm-igDU130_provenance { dgn-np:NP1620.RAblXGCyNNxZjh5tUSMF4FX7bOyFuXyhjbM2LLCm-igDU130_assertion dc:description "[ALAD porphyria is a recessive disorder; there are two common variant ALAD alleles, which encode K59 and N59, and eight known porphyria-associated ALAD mutations, which encode F12L, E89K, C132R, G133R, V153M, R240W, A274T, and V275M.]. 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:17236137; prov:wasDerivedFrom dgn-void:uniprot-20150221; 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-20150221 pav:importedOn "2015-02-21"^^xsd:date . } dgn-np:NP1620.RAblXGCyNNxZjh5tUSMF4FX7bOyFuXyhjbM2LLCm-igDU130_publicationInfo { this: dc:created "2015-08-25T14:37:42+02:00"^^xsd:dateTime; dc:rights ; dc:rightsHolder dgn-void:IBIGroup; dc:subject sio:SIO_000983; prv:usedData dgn-void:disgenetv3.0rdf; pav:authoredBy orcid:0000-0001-5999-6269, orcid:0000-0002-7534-7661, orcid:0000-0002-9383-528X, orcid:0000-0003-0169-8159, orcid:0000-0003-1244-7654; pav:createdBy orcid:0000-0003-0169-8159; pav:version "v3.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v3.0.0" . }