@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:NP176581.RA2LLRsueYX_suf18JaihimtwI4vKV5m_MalSuhKfT2p0130_head { this: np:hasAssertion dgn-np:NP176581.RA2LLRsueYX_suf18JaihimtwI4vKV5m_MalSuhKfT2p0130_assertion; np:hasProvenance dgn-np:NP176581.RA2LLRsueYX_suf18JaihimtwI4vKV5m_MalSuhKfT2p0130_provenance; np:hasPublicationInfo dgn-np:NP176581.RA2LLRsueYX_suf18JaihimtwI4vKV5m_MalSuhKfT2p0130_publicationInfo; a np:Nanopublication . dgn-np:NP176581.RA2LLRsueYX_suf18JaihimtwI4vKV5m_MalSuhKfT2p0130_assertion a np:Assertion . dgn-np:NP176581.RA2LLRsueYX_suf18JaihimtwI4vKV5m_MalSuhKfT2p0130_provenance a np:Provenance . dgn-np:NP176581.RA2LLRsueYX_suf18JaihimtwI4vKV5m_MalSuhKfT2p0130_publicationInfo a np:PublicationInfo . } dgn-np:NP176581.RA2LLRsueYX_suf18JaihimtwI4vKV5m_MalSuhKfT2p0130_assertion { miriam-gene:1896 a ncit:C16612 . lld:C1720965 a ncit:C7057 . dgn-gda:DGN4ce6d4d4619285f4de5fa42f9a92fc29 sio:SIO_000628 miriam-gene:1896, lld:C1720965; a sio:SIO_001121 . } dgn-np:NP176581.RA2LLRsueYX_suf18JaihimtwI4vKV5m_MalSuhKfT2p0130_provenance { dgn-np:NP176581.RA2LLRsueYX_suf18JaihimtwI4vKV5m_MalSuhKfT2p0130_assertion dcterms:description "[Mutations in three functionally related genes EDA, EDAR and EDARDD have been reported to cause hypohidrotic ectodermal dysplasia (HED), which is characterized by sparse hair, reduced ability to sweat, and hypodontia.]. 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:19551394; 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:NP176581.RA2LLRsueYX_suf18JaihimtwI4vKV5m_MalSuhKfT2p0130_publicationInfo { this: dcterms:created "2014-10-02T12:33:35+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" . }