http://rdf.disgenet.org/resource/nanopub/NP1135993.RAn6pUX1gkKgN74LXh-hBPnnfhCOSkb0YoFn5etGB1c3Q#head http://rdf.disgenet.org/resource/nanopub/NP1135993.RAn6pUX1gkKgN74LXh-hBPnnfhCOSkb0YoFn5etGB1c3Q http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1135993.RAn6pUX1gkKgN74LXh-hBPnnfhCOSkb0YoFn5etGB1c3Q#assertion http://rdf.disgenet.org/resource/nanopub/NP1135993.RAn6pUX1gkKgN74LXh-hBPnnfhCOSkb0YoFn5etGB1c3Q http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1135993.RAn6pUX1gkKgN74LXh-hBPnnfhCOSkb0YoFn5etGB1c3Q#provenance http://rdf.disgenet.org/resource/nanopub/NP1135993.RAn6pUX1gkKgN74LXh-hBPnnfhCOSkb0YoFn5etGB1c3Q http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1135993.RAn6pUX1gkKgN74LXh-hBPnnfhCOSkb0YoFn5etGB1c3Q#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1135993.RAn6pUX1gkKgN74LXh-hBPnnfhCOSkb0YoFn5etGB1c3Q http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1135993.RAn6pUX1gkKgN74LXh-hBPnnfhCOSkb0YoFn5etGB1c3Q#assertion http://rdf.disgenet.org/resource/gda/DGN7109260d5edeb6b4fa7c4c9df6aa3ddf http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/8085 http://rdf.disgenet.org/resource/gda/DGN7109260d5edeb6b4fa7c4c9df6aa3ddf http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0000768 http://rdf.disgenet.org/resource/gda/DGN7109260d5edeb6b4fa7c4c9df6aa3ddf http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP1135993.RAn6pUX1gkKgN74LXh-hBPnnfhCOSkb0YoFn5etGB1c3Q#provenance http://rdf.disgenet.org/resource/nanopub/NP1135993.RAn6pUX1gkKgN74LXh-hBPnnfhCOSkb0YoFn5etGB1c3Q#assertion http://purl.org/dc/terms/description [Finally, we apply a rare-disease inheritance model to identify variation in genes previously associated with CHD (ZFPM2, NSD1, NOTCH1, VCAN, and MYH6), cardiac malformations in mouse models (ADAM17, CHRD, IFT140, PTPRJ, RYR1 and ATE1), and hypomorphic alleles of genes causing syndromic CHD (EHMT1, SRCAP, BBS2, NOTCH2, and KMT2D) in 14 of 59 trios, greatly exceeding variation in control trios without CHD (p = 9.60e-06).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1135993.RAn6pUX1gkKgN74LXh-hBPnnfhCOSkb0YoFn5etGB1c3Q#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/NP1135993.RAn6pUX1gkKgN74LXh-hBPnnfhCOSkb0YoFn5etGB1c3Q#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/27058611 http://rdf.disgenet.org/resource/nanopub/NP1135993.RAn6pUX1gkKgN74LXh-hBPnnfhCOSkb0YoFn5etGB1c3Q#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP1135993.RAn6pUX1gkKgN74LXh-hBPnnfhCOSkb0YoFn5etGB1c3Q#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/NP1135993.RAn6pUX1gkKgN74LXh-hBPnnfhCOSkb0YoFn5etGB1c3Q#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1135993.RAn6pUX1gkKgN74LXh-hBPnnfhCOSkb0YoFn5etGB1c3Q http://purl.org/dc/terms/created 2017-10-17T13:17:25+02:00 http://rdf.disgenet.org/resource/nanopub/NP1135993.RAn6pUX1gkKgN74LXh-hBPnnfhCOSkb0YoFn5etGB1c3Q http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1135993.RAn6pUX1gkKgN74LXh-hBPnnfhCOSkb0YoFn5etGB1c3Q http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1135993.RAn6pUX1gkKgN74LXh-hBPnnfhCOSkb0YoFn5etGB1c3Q http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1135993.RAn6pUX1gkKgN74LXh-hBPnnfhCOSkb0YoFn5etGB1c3Q http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1135993.RAn6pUX1gkKgN74LXh-hBPnnfhCOSkb0YoFn5etGB1c3Q http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1135993.RAn6pUX1gkKgN74LXh-hBPnnfhCOSkb0YoFn5etGB1c3Q http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1135993.RAn6pUX1gkKgN74LXh-hBPnnfhCOSkb0YoFn5etGB1c3Q http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1135993.RAn6pUX1gkKgN74LXh-hBPnnfhCOSkb0YoFn5etGB1c3Q http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1135993.RAn6pUX1gkKgN74LXh-hBPnnfhCOSkb0YoFn5etGB1c3Q http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1135993.RAn6pUX1gkKgN74LXh-hBPnnfhCOSkb0YoFn5etGB1c3Q http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1135993.RAn6pUX1gkKgN74LXh-hBPnnfhCOSkb0YoFn5etGB1c3Q 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