http://rdf.disgenet.org/resource/nanopub/NP1234105.RAdYx8EtRizx6DyorHkhkZQTd5rp2wSWVxvSgmk6wawHE#head http://rdf.disgenet.org/resource/nanopub/NP1234105.RAdYx8EtRizx6DyorHkhkZQTd5rp2wSWVxvSgmk6wawHE http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1234105.RAdYx8EtRizx6DyorHkhkZQTd5rp2wSWVxvSgmk6wawHE#assertion http://rdf.disgenet.org/resource/nanopub/NP1234105.RAdYx8EtRizx6DyorHkhkZQTd5rp2wSWVxvSgmk6wawHE http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1234105.RAdYx8EtRizx6DyorHkhkZQTd5rp2wSWVxvSgmk6wawHE#provenance http://rdf.disgenet.org/resource/nanopub/NP1234105.RAdYx8EtRizx6DyorHkhkZQTd5rp2wSWVxvSgmk6wawHE http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1234105.RAdYx8EtRizx6DyorHkhkZQTd5rp2wSWVxvSgmk6wawHE#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1234105.RAdYx8EtRizx6DyorHkhkZQTd5rp2wSWVxvSgmk6wawHE http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1234105.RAdYx8EtRizx6DyorHkhkZQTd5rp2wSWVxvSgmk6wawHE#assertion http://rdf.disgenet.org/resource/gda/DGN8c3f63d3a425220126082014552eb280 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/10908 http://rdf.disgenet.org/resource/gda/DGN8c3f63d3a425220126082014552eb280 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0037773 http://rdf.disgenet.org/resource/gda/DGN8c3f63d3a425220126082014552eb280 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP1234105.RAdYx8EtRizx6DyorHkhkZQTd5rp2wSWVxvSgmk6wawHE#provenance http://rdf.disgenet.org/resource/nanopub/NP1234105.RAdYx8EtRizx6DyorHkhkZQTd5rp2wSWVxvSgmk6wawHE#assertion http://purl.org/dc/terms/description [Among the AR-SPGs, ~20% of the patients carry mutations in the KIAA1840 (SPG11) gene whereas the 15 other genes are rarely mutated and account for SPGs in single families yet (CYP7B1 (SPG5), SPG7 (SPG7), ZFYVE26 (SPG15), ERLIN2 (SPG18), SPG20 (SPG20), ACP33 (SPG21), KIF1A (SPG30), FA2H (SPG35), NTE (SPG39), GJA12/GJC2 (SPG44), KIAA0415 (SPG48) and 4 genes encoding for the AP4-complex (SPG47)).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1234105.RAdYx8EtRizx6DyorHkhkZQTd5rp2wSWVxvSgmk6wawHE#assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP1234105.RAdYx8EtRizx6DyorHkhkZQTd5rp2wSWVxvSgmk6wawHE#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/22554690 http://rdf.disgenet.org/resource/nanopub/NP1234105.RAdYx8EtRizx6DyorHkhkZQTd5rp2wSWVxvSgmk6wawHE#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP1234105.RAdYx8EtRizx6DyorHkhkZQTd5rp2wSWVxvSgmk6wawHE#assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v5.0.0/void/BEFREE http://purl.org/pav/importedOn 2017-02-19 http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/ECO_0000212 http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#comment Gene-disease associations inferred from text-mining the literature. http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP1234105.RAdYx8EtRizx6DyorHkhkZQTd5rp2wSWVxvSgmk6wawHE#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1234105.RAdYx8EtRizx6DyorHkhkZQTd5rp2wSWVxvSgmk6wawHE http://purl.org/dc/terms/created 2017-10-17T13:18:03+02:00 http://rdf.disgenet.org/resource/nanopub/NP1234105.RAdYx8EtRizx6DyorHkhkZQTd5rp2wSWVxvSgmk6wawHE http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1234105.RAdYx8EtRizx6DyorHkhkZQTd5rp2wSWVxvSgmk6wawHE http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1234105.RAdYx8EtRizx6DyorHkhkZQTd5rp2wSWVxvSgmk6wawHE http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1234105.RAdYx8EtRizx6DyorHkhkZQTd5rp2wSWVxvSgmk6wawHE http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1234105.RAdYx8EtRizx6DyorHkhkZQTd5rp2wSWVxvSgmk6wawHE http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1234105.RAdYx8EtRizx6DyorHkhkZQTd5rp2wSWVxvSgmk6wawHE http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1234105.RAdYx8EtRizx6DyorHkhkZQTd5rp2wSWVxvSgmk6wawHE http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1234105.RAdYx8EtRizx6DyorHkhkZQTd5rp2wSWVxvSgmk6wawHE http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1234105.RAdYx8EtRizx6DyorHkhkZQTd5rp2wSWVxvSgmk6wawHE http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1234105.RAdYx8EtRizx6DyorHkhkZQTd5rp2wSWVxvSgmk6wawHE http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1234105.RAdYx8EtRizx6DyorHkhkZQTd5rp2wSWVxvSgmk6wawHE http://purl.org/pav/version v5.0.0.0 http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v5.0.0