http://rdf.disgenet.org/resource/nanopub/NP724809.RAP0t0P2Vsq5_p7Iz_lNpx6IzDDtroueyoO7DmzqlBPsQ130_head http://rdf.disgenet.org/resource/nanopub/NP724809.RAP0t0P2Vsq5_p7Iz_lNpx6IzDDtroueyoO7DmzqlBPsQ http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP724809.RAP0t0P2Vsq5_p7Iz_lNpx6IzDDtroueyoO7DmzqlBPsQ130_assertion http://rdf.disgenet.org/resource/nanopub/NP724809.RAP0t0P2Vsq5_p7Iz_lNpx6IzDDtroueyoO7DmzqlBPsQ http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP724809.RAP0t0P2Vsq5_p7Iz_lNpx6IzDDtroueyoO7DmzqlBPsQ130_provenance http://rdf.disgenet.org/resource/nanopub/NP724809.RAP0t0P2Vsq5_p7Iz_lNpx6IzDDtroueyoO7DmzqlBPsQ http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP724809.RAP0t0P2Vsq5_p7Iz_lNpx6IzDDtroueyoO7DmzqlBPsQ130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP724809.RAP0t0P2Vsq5_p7Iz_lNpx6IzDDtroueyoO7DmzqlBPsQ http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP724809.RAP0t0P2Vsq5_p7Iz_lNpx6IzDDtroueyoO7DmzqlBPsQ130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP724809.RAP0t0P2Vsq5_p7Iz_lNpx6IzDDtroueyoO7DmzqlBPsQ130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP724809.RAP0t0P2Vsq5_p7Iz_lNpx6IzDDtroueyoO7DmzqlBPsQ130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP724809.RAP0t0P2Vsq5_p7Iz_lNpx6IzDDtroueyoO7DmzqlBPsQ130_assertion http://identifiers.org/ncbigene/5244 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612 http://linkedlifedata.com/resource/umls/id/C0008370 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7057 http://rdf.disgenet.org/resource/gda/DGNf496d38b3fe0e03b8e611135841f6ad4 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/5244 http://rdf.disgenet.org/resource/gda/DGNf496d38b3fe0e03b8e611135841f6ad4 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0008370 http://rdf.disgenet.org/resource/gda/DGNf496d38b3fe0e03b8e611135841f6ad4 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP724809.RAP0t0P2Vsq5_p7Iz_lNpx6IzDDtroueyoO7DmzqlBPsQ130_provenance http://rdf.disgenet.org/resource/nanopub/NP724809.RAP0t0P2Vsq5_p7Iz_lNpx6IzDDtroueyoO7DmzqlBPsQ130_assertion http://purl.org/dc/terms/description [Class III multidrug resistance P-glycoproteins, mdr2 in mice and MDR3 in human, are canalicular phospholipid translocators involved in biliary phospholipid (phosphatidylcholine) excretion.The role of a MDR3 (ABCB4) gene defect in liver disease has been initially proven in a subtype of progressive familial intrahepatic cholestasis called PFIC3, a severe pediatric liver disease that may require liver transplantation.Several MDR3 mutations have been identified in children with PFIC3 and are associated to low level of phospholipids in bile leading to high biliary cholesterol saturation index.MDR3 mutations are associated to loss of canalicular MDR3 protein and /or to loss of protein function.There is evidence that biallelic or monoallelic MDR3 defect causes or predisposes to 6 human liver diseases (PFIC3, adult biliary cirrhosis, low phospholipid associated cholelithiasis syndrome, transient neonatal cholestasis, intrahepatic cholestasis of pregnancy, drug induced cholestasis).Some patients with MDR3 deficiency may benefit from ursodeoxycholic acid therapy and could be good candidates to a targeted pharmacological approach and/or to cell therapy in the future.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP724809.RAP0t0P2Vsq5_p7Iz_lNpx6IzDDtroueyoO7DmzqlBPsQ130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP724809.RAP0t0P2Vsq5_p7Iz_lNpx6IzDDtroueyoO7DmzqlBPsQ130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/19273348 http://rdf.disgenet.org/resource/nanopub/NP724809.RAP0t0P2Vsq5_p7Iz_lNpx6IzDDtroueyoO7DmzqlBPsQ130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP724809.RAP0t0P2Vsq5_p7Iz_lNpx6IzDDtroueyoO7DmzqlBPsQ130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://purl.org/pav/importedOn 2016-02-19 http://rdf.disgenet.org/v4.0.0/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/v4.0.0/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/v4.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP724809.RAP0t0P2Vsq5_p7Iz_lNpx6IzDDtroueyoO7DmzqlBPsQ130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP724809.RAP0t0P2Vsq5_p7Iz_lNpx6IzDDtroueyoO7DmzqlBPsQ http://purl.org/dc/terms/created 2016-05-13T12:47:13+02:00 http://rdf.disgenet.org/resource/nanopub/NP724809.RAP0t0P2Vsq5_p7Iz_lNpx6IzDDtroueyoO7DmzqlBPsQ http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP724809.RAP0t0P2Vsq5_p7Iz_lNpx6IzDDtroueyoO7DmzqlBPsQ http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP724809.RAP0t0P2Vsq5_p7Iz_lNpx6IzDDtroueyoO7DmzqlBPsQ http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP724809.RAP0t0P2Vsq5_p7Iz_lNpx6IzDDtroueyoO7DmzqlBPsQ http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP724809.RAP0t0P2Vsq5_p7Iz_lNpx6IzDDtroueyoO7DmzqlBPsQ http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP724809.RAP0t0P2Vsq5_p7Iz_lNpx6IzDDtroueyoO7DmzqlBPsQ http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP724809.RAP0t0P2Vsq5_p7Iz_lNpx6IzDDtroueyoO7DmzqlBPsQ http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP724809.RAP0t0P2Vsq5_p7Iz_lNpx6IzDDtroueyoO7DmzqlBPsQ http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP724809.RAP0t0P2Vsq5_p7Iz_lNpx6IzDDtroueyoO7DmzqlBPsQ http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP724809.RAP0t0P2Vsq5_p7Iz_lNpx6IzDDtroueyoO7DmzqlBPsQ http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP724809.RAP0t0P2Vsq5_p7Iz_lNpx6IzDDtroueyoO7DmzqlBPsQ http://purl.org/pav/version v4.0.0.0 http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v4.0.0