@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:NP1030564.RA0VjGbd8Knk8D1hkl6rsrPE5_kcPy_qkVyqbkHCyWAU4130_head { this: np:hasAssertion dgn-np:NP1030564.RA0VjGbd8Knk8D1hkl6rsrPE5_kcPy_qkVyqbkHCyWAU4130_assertion; np:hasProvenance dgn-np:NP1030564.RA0VjGbd8Knk8D1hkl6rsrPE5_kcPy_qkVyqbkHCyWAU4130_provenance; np:hasPublicationInfo dgn-np:NP1030564.RA0VjGbd8Knk8D1hkl6rsrPE5_kcPy_qkVyqbkHCyWAU4130_publicationInfo; a np:Nanopublication . dgn-np:NP1030564.RA0VjGbd8Knk8D1hkl6rsrPE5_kcPy_qkVyqbkHCyWAU4130_assertion a np:Assertion . dgn-np:NP1030564.RA0VjGbd8Knk8D1hkl6rsrPE5_kcPy_qkVyqbkHCyWAU4130_provenance a np:Provenance . dgn-np:NP1030564.RA0VjGbd8Knk8D1hkl6rsrPE5_kcPy_qkVyqbkHCyWAU4130_publicationInfo a np:PublicationInfo . } dgn-np:NP1030564.RA0VjGbd8Knk8D1hkl6rsrPE5_kcPy_qkVyqbkHCyWAU4130_assertion { miriam-gene:6392 a ncit:C16612 . lld:C0030421 a ncit:C7057 . dgn-gda:DGNf62a2ec71b869606bf1485b0ff0e02ce sio:SIO_000628 miriam-gene:6392, lld:C0030421; a sio:SIO_001121 . } dgn-np:NP1030564.RA0VjGbd8Knk8D1hkl6rsrPE5_kcPy_qkVyqbkHCyWAU4130_provenance { dgn-np:NP1030564.RA0VjGbd8Knk8D1hkl6rsrPE5_kcPy_qkVyqbkHCyWAU4130_assertion dcterms:description "[Heterozygous germline mutations in SDHA, SDHB, SDHC, SDHD and in the assembly factor encoding gene SDHAF2 have all been shown to predispose to heritable endocrine neoplasias such as pheochromocytomas (PHEO) and paragangliomas (PGLs) called 'PHEO-PGL 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:23175444; prov:wasDerivedFrom dgn-void:befree-2016; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-2016 pav:importedOn "2016-02-19"^^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:NP1030564.RA0VjGbd8Knk8D1hkl6rsrPE5_kcPy_qkVyqbkHCyWAU4130_publicationInfo { this: dcterms:created "2016-05-13T12:49:33+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 "v4.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v4.0.0" . }