http://rdf.disgenet.org/resource/nanopub/NP831231.RAsAYzTxNgjcPVMfWggvJwGV_yiE_msAAFqNTdcvB13T4130_head http://rdf.disgenet.org/resource/nanopub/NP831231.RAsAYzTxNgjcPVMfWggvJwGV_yiE_msAAFqNTdcvB13T4 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP831231.RAsAYzTxNgjcPVMfWggvJwGV_yiE_msAAFqNTdcvB13T4130_assertion http://rdf.disgenet.org/resource/nanopub/NP831231.RAsAYzTxNgjcPVMfWggvJwGV_yiE_msAAFqNTdcvB13T4 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP831231.RAsAYzTxNgjcPVMfWggvJwGV_yiE_msAAFqNTdcvB13T4130_provenance http://rdf.disgenet.org/resource/nanopub/NP831231.RAsAYzTxNgjcPVMfWggvJwGV_yiE_msAAFqNTdcvB13T4 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP831231.RAsAYzTxNgjcPVMfWggvJwGV_yiE_msAAFqNTdcvB13T4130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP831231.RAsAYzTxNgjcPVMfWggvJwGV_yiE_msAAFqNTdcvB13T4 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP831231.RAsAYzTxNgjcPVMfWggvJwGV_yiE_msAAFqNTdcvB13T4130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP831231.RAsAYzTxNgjcPVMfWggvJwGV_yiE_msAAFqNTdcvB13T4130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP831231.RAsAYzTxNgjcPVMfWggvJwGV_yiE_msAAFqNTdcvB13T4130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP831231.RAsAYzTxNgjcPVMfWggvJwGV_yiE_msAAFqNTdcvB13T4130_assertion http://identifiers.org/ncbigene/9839 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/C2931876 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/DGNbcfc50b67973e2e7fef172adf70bf7b4 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/9839 http://rdf.disgenet.org/resource/gda/DGNbcfc50b67973e2e7fef172adf70bf7b4 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C2931876 http://rdf.disgenet.org/resource/gda/DGNbcfc50b67973e2e7fef172adf70bf7b4 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP831231.RAsAYzTxNgjcPVMfWggvJwGV_yiE_msAAFqNTdcvB13T4130_provenance http://rdf.disgenet.org/resource/nanopub/NP831231.RAsAYzTxNgjcPVMfWggvJwGV_yiE_msAAFqNTdcvB13T4130_assertion http://purl.org/dc/terms/description [Recently mutations in the gene ZFHX1B (SIP1) were shown in patients with 'syndromic Hirschsprung disease' with mental retardation (MR) and multiple congenital anomalies (MCA), but it was unclear if Hirschsprung disease is an obligate symptom of these mutations and if the distinct facial phenotype delineated by Mowat et al.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP831231.RAsAYzTxNgjcPVMfWggvJwGV_yiE_msAAFqNTdcvB13T4130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP831231.RAsAYzTxNgjcPVMfWggvJwGV_yiE_msAAFqNTdcvB13T4130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/11891681 http://rdf.disgenet.org/resource/nanopub/NP831231.RAsAYzTxNgjcPVMfWggvJwGV_yiE_msAAFqNTdcvB13T4130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP831231.RAsAYzTxNgjcPVMfWggvJwGV_yiE_msAAFqNTdcvB13T4130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://purl.org/pav/importedOn 2015-02-27 http://rdf.disgenet.org/v3.0.0/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/v3.0.0/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/v3.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP831231.RAsAYzTxNgjcPVMfWggvJwGV_yiE_msAAFqNTdcvB13T4130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP831231.RAsAYzTxNgjcPVMfWggvJwGV_yiE_msAAFqNTdcvB13T4 http://purl.org/dc/terms/created 2015-08-25T14:46:04+02:00 http://rdf.disgenet.org/resource/nanopub/NP831231.RAsAYzTxNgjcPVMfWggvJwGV_yiE_msAAFqNTdcvB13T4 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP831231.RAsAYzTxNgjcPVMfWggvJwGV_yiE_msAAFqNTdcvB13T4 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP831231.RAsAYzTxNgjcPVMfWggvJwGV_yiE_msAAFqNTdcvB13T4 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP831231.RAsAYzTxNgjcPVMfWggvJwGV_yiE_msAAFqNTdcvB13T4 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP831231.RAsAYzTxNgjcPVMfWggvJwGV_yiE_msAAFqNTdcvB13T4 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP831231.RAsAYzTxNgjcPVMfWggvJwGV_yiE_msAAFqNTdcvB13T4 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP831231.RAsAYzTxNgjcPVMfWggvJwGV_yiE_msAAFqNTdcvB13T4 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP831231.RAsAYzTxNgjcPVMfWggvJwGV_yiE_msAAFqNTdcvB13T4 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP831231.RAsAYzTxNgjcPVMfWggvJwGV_yiE_msAAFqNTdcvB13T4 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP831231.RAsAYzTxNgjcPVMfWggvJwGV_yiE_msAAFqNTdcvB13T4 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP831231.RAsAYzTxNgjcPVMfWggvJwGV_yiE_msAAFqNTdcvB13T4 http://purl.org/pav/version v3.0.0.0 http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v3.0.0