@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:NP1352835.RAcLmg5EFg51tNcG30rVGRzZknd34A1pCHlNTakOUdMog130_head { this: np:hasAssertion dgn-np:NP1352835.RAcLmg5EFg51tNcG30rVGRzZknd34A1pCHlNTakOUdMog130_assertion; np:hasProvenance dgn-np:NP1352835.RAcLmg5EFg51tNcG30rVGRzZknd34A1pCHlNTakOUdMog130_provenance; np:hasPublicationInfo dgn-np:NP1352835.RAcLmg5EFg51tNcG30rVGRzZknd34A1pCHlNTakOUdMog130_publicationInfo; a np:Nanopublication . dgn-np:NP1352835.RAcLmg5EFg51tNcG30rVGRzZknd34A1pCHlNTakOUdMog130_assertion a np:Assertion . dgn-np:NP1352835.RAcLmg5EFg51tNcG30rVGRzZknd34A1pCHlNTakOUdMog130_provenance a np:Provenance . dgn-np:NP1352835.RAcLmg5EFg51tNcG30rVGRzZknd34A1pCHlNTakOUdMog130_publicationInfo a np:PublicationInfo . } dgn-np:NP1352835.RAcLmg5EFg51tNcG30rVGRzZknd34A1pCHlNTakOUdMog130_assertion { miriam-gene:2965 a ncit:C16612 . lld:C0043346 a ncit:C7057 . dgn-gda:DGNfb72eb4cf2545a7455241bd7327ffb7c sio:SIO_000628 miriam-gene:2965, lld:C0043346; a sio:SIO_001121 . } dgn-np:NP1352835.RAcLmg5EFg51tNcG30rVGRzZknd34A1pCHlNTakOUdMog130_provenance { dgn-np:NP1352835.RAcLmg5EFg51tNcG30rVGRzZknd34A1pCHlNTakOUdMog130_assertion dcterms:description "[Human cells from patients suffering with xeroderma pigmentosum (XP) characterized by extreme sensitivity to UV light and a high incidence of skin tumors fall into seven complementation groups, XPA to XPG, and are lacking a functional helicase, endonuclease, or lesion-recognizing protein involved in the initial steps during nucleotide excision repair (NER); a number of proteins involved in DNA repair are termed XPA to XPG depending on which one is defective in a particular complementation group of XP and include: (i) proteins involved in the recognition of (6-4) photoproducts (XPE) and of a broad range of lesions such as pyrimidine dimers (XPA); (ii) proteins that are DNA helicases and integral parts of the general transcription factor TFIIH functioning in both transcription and repair (XPB, XPD); (iii) endonucleases that perform the two incisions, the XPG incising six nucleotides (nt) to the 3' side from a photodimer and the ERCC1-XPF protein complex incising 22 nt to the 5' side of the lesion; and (iv) single-strand DNA-binding proteins (XPC).]. 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:8687116; 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:NP1352835.RAcLmg5EFg51tNcG30rVGRzZknd34A1pCHlNTakOUdMog130_publicationInfo { this: dcterms:created "2016-05-13T12:51:59+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" . }