http://rdf.disgenet.org/resource/nanopub/NP1351729.RA6yP3nPg3lzl995AjCBO9PeUQLSHXjZPo1VaX_vAhd24#head http://rdf.disgenet.org/resource/nanopub/NP1351729.RA6yP3nPg3lzl995AjCBO9PeUQLSHXjZPo1VaX_vAhd24 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1351729.RA6yP3nPg3lzl995AjCBO9PeUQLSHXjZPo1VaX_vAhd24#assertion http://rdf.disgenet.org/resource/nanopub/NP1351729.RA6yP3nPg3lzl995AjCBO9PeUQLSHXjZPo1VaX_vAhd24 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1351729.RA6yP3nPg3lzl995AjCBO9PeUQLSHXjZPo1VaX_vAhd24#provenance http://rdf.disgenet.org/resource/nanopub/NP1351729.RA6yP3nPg3lzl995AjCBO9PeUQLSHXjZPo1VaX_vAhd24 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1351729.RA6yP3nPg3lzl995AjCBO9PeUQLSHXjZPo1VaX_vAhd24#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1351729.RA6yP3nPg3lzl995AjCBO9PeUQLSHXjZPo1VaX_vAhd24 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1351729.RA6yP3nPg3lzl995AjCBO9PeUQLSHXjZPo1VaX_vAhd24#assertion http://rdf.disgenet.org/resource/gda/DGN5e5bf568ea0f343d59d8cc50da58e5a7 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/57680 http://rdf.disgenet.org/resource/gda/DGN5e5bf568ea0f343d59d8cc50da58e5a7 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0221355 http://rdf.disgenet.org/resource/gda/DGN5e5bf568ea0f343d59d8cc50da58e5a7 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP1351729.RA6yP3nPg3lzl995AjCBO9PeUQLSHXjZPo1VaX_vAhd24#provenance http://rdf.disgenet.org/resource/nanopub/NP1351729.RA6yP3nPg3lzl995AjCBO9PeUQLSHXjZPo1VaX_vAhd24#assertion http://purl.org/dc/terms/description [In addition to a high likelihood of an ASD diagnosis among patients bearing CHD8 mutations, characteristics enriched in this group included macrocephaly, distinct faces, and gastrointestinal complaints. chd8 disruption in zebrafish recapitulates features of the human phenotype, including increased head size as a result of expansion of the forebrain/midbrain and impairment of gastrointestinal motility due to a reduction in postmitotic enteric neurons.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1351729.RA6yP3nPg3lzl995AjCBO9PeUQLSHXjZPo1VaX_vAhd24#assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v5.0.0/void/source_evidence_curated http://rdf.disgenet.org/resource/nanopub/NP1351729.RA6yP3nPg3lzl995AjCBO9PeUQLSHXjZPo1VaX_vAhd24#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/24998929 http://rdf.disgenet.org/resource/nanopub/NP1351729.RA6yP3nPg3lzl995AjCBO9PeUQLSHXjZPo1VaX_vAhd24#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/CTD_human http://rdf.disgenet.org/resource/nanopub/NP1351729.RA6yP3nPg3lzl995AjCBO9PeUQLSHXjZPo1VaX_vAhd24#assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000218 http://rdf.disgenet.org/v5.0.0/void/CTD_human http://purl.org/pav/importedOn 2017-01-25 http://rdf.disgenet.org/v5.0.0/void/source_evidence_curated http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/ECO_0000205 http://rdf.disgenet.org/v5.0.0/void/source_evidence_curated http://www.w3.org/2000/01/rdf-schema#comment Gene-disease associations manually curated. http://rdf.disgenet.org/v5.0.0/void/source_evidence_curated http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - CURATED http://rdf.disgenet.org/resource/nanopub/NP1351729.RA6yP3nPg3lzl995AjCBO9PeUQLSHXjZPo1VaX_vAhd24#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1351729.RA6yP3nPg3lzl995AjCBO9PeUQLSHXjZPo1VaX_vAhd24 http://purl.org/dc/terms/created 2017-10-17T13:18:46+02:00 http://rdf.disgenet.org/resource/nanopub/NP1351729.RA6yP3nPg3lzl995AjCBO9PeUQLSHXjZPo1VaX_vAhd24 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1351729.RA6yP3nPg3lzl995AjCBO9PeUQLSHXjZPo1VaX_vAhd24 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1351729.RA6yP3nPg3lzl995AjCBO9PeUQLSHXjZPo1VaX_vAhd24 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1351729.RA6yP3nPg3lzl995AjCBO9PeUQLSHXjZPo1VaX_vAhd24 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1351729.RA6yP3nPg3lzl995AjCBO9PeUQLSHXjZPo1VaX_vAhd24 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1351729.RA6yP3nPg3lzl995AjCBO9PeUQLSHXjZPo1VaX_vAhd24 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1351729.RA6yP3nPg3lzl995AjCBO9PeUQLSHXjZPo1VaX_vAhd24 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1351729.RA6yP3nPg3lzl995AjCBO9PeUQLSHXjZPo1VaX_vAhd24 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1351729.RA6yP3nPg3lzl995AjCBO9PeUQLSHXjZPo1VaX_vAhd24 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1351729.RA6yP3nPg3lzl995AjCBO9PeUQLSHXjZPo1VaX_vAhd24 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1351729.RA6yP3nPg3lzl995AjCBO9PeUQLSHXjZPo1VaX_vAhd24 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