http://rdf.disgenet.org/resource/nanopub/NP1160957.RA7yDqWu5ZGqrJPEH3FjGi6YXeTcsTn4fsVempyAvdbws#head
http://rdf.disgenet.org/resource/nanopub/NP1160957.RA7yDqWu5ZGqrJPEH3FjGi6YXeTcsTn4fsVempyAvdbws
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP1160957.RA7yDqWu5ZGqrJPEH3FjGi6YXeTcsTn4fsVempyAvdbws#assertion
http://rdf.disgenet.org/resource/nanopub/NP1160957.RA7yDqWu5ZGqrJPEH3FjGi6YXeTcsTn4fsVempyAvdbws
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP1160957.RA7yDqWu5ZGqrJPEH3FjGi6YXeTcsTn4fsVempyAvdbws#provenance
http://rdf.disgenet.org/resource/nanopub/NP1160957.RA7yDqWu5ZGqrJPEH3FjGi6YXeTcsTn4fsVempyAvdbws
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1160957.RA7yDqWu5ZGqrJPEH3FjGi6YXeTcsTn4fsVempyAvdbws#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1160957.RA7yDqWu5ZGqrJPEH3FjGi6YXeTcsTn4fsVempyAvdbws
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP1160957.RA7yDqWu5ZGqrJPEH3FjGi6YXeTcsTn4fsVempyAvdbws#assertion
http://rdf.disgenet.org/resource/gda/DGN3e66bfde03e2c600cb3568d282d24e17
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/8829
http://rdf.disgenet.org/resource/gda/DGN3e66bfde03e2c600cb3568d282d24e17
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C3899989
http://rdf.disgenet.org/resource/gda/DGN3e66bfde03e2c600cb3568d282d24e17
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001121
http://rdf.disgenet.org/resource/nanopub/NP1160957.RA7yDqWu5ZGqrJPEH3FjGi6YXeTcsTn4fsVempyAvdbws#provenance
http://rdf.disgenet.org/resource/nanopub/NP1160957.RA7yDqWu5ZGqrJPEH3FjGi6YXeTcsTn4fsVempyAvdbws#assertion
http://purl.org/dc/terms/description
[Mutations in the gene coding for the transmembrane receptor protein Patched (PTCH) are implicated in the autosomal dominant disorder Gorlin syndrome (also known as naevoid basal cell carcinoma syndrome), characterized by congenital abnormalities and cancer predisposition.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP1160957.RA7yDqWu5ZGqrJPEH3FjGi6YXeTcsTn4fsVempyAvdbws#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/NP1160957.RA7yDqWu5ZGqrJPEH3FjGi6YXeTcsTn4fsVempyAvdbws#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/18476955
http://rdf.disgenet.org/resource/nanopub/NP1160957.RA7yDqWu5ZGqrJPEH3FjGi6YXeTcsTn4fsVempyAvdbws#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP1160957.RA7yDqWu5ZGqrJPEH3FjGi6YXeTcsTn4fsVempyAvdbws#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/NP1160957.RA7yDqWu5ZGqrJPEH3FjGi6YXeTcsTn4fsVempyAvdbws#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1160957.RA7yDqWu5ZGqrJPEH3FjGi6YXeTcsTn4fsVempyAvdbws
http://purl.org/dc/terms/created
2017-10-17T13:17:35+02:00
http://rdf.disgenet.org/resource/nanopub/NP1160957.RA7yDqWu5ZGqrJPEH3FjGi6YXeTcsTn4fsVempyAvdbws
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP1160957.RA7yDqWu5ZGqrJPEH3FjGi6YXeTcsTn4fsVempyAvdbws
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP1160957.RA7yDqWu5ZGqrJPEH3FjGi6YXeTcsTn4fsVempyAvdbws
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP1160957.RA7yDqWu5ZGqrJPEH3FjGi6YXeTcsTn4fsVempyAvdbws
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP1160957.RA7yDqWu5ZGqrJPEH3FjGi6YXeTcsTn4fsVempyAvdbws
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP1160957.RA7yDqWu5ZGqrJPEH3FjGi6YXeTcsTn4fsVempyAvdbws
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP1160957.RA7yDqWu5ZGqrJPEH3FjGi6YXeTcsTn4fsVempyAvdbws
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP1160957.RA7yDqWu5ZGqrJPEH3FjGi6YXeTcsTn4fsVempyAvdbws
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1160957.RA7yDqWu5ZGqrJPEH3FjGi6YXeTcsTn4fsVempyAvdbws
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP1160957.RA7yDqWu5ZGqrJPEH3FjGi6YXeTcsTn4fsVempyAvdbws
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1160957.RA7yDqWu5ZGqrJPEH3FjGi6YXeTcsTn4fsVempyAvdbws
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