http://rdf.disgenet.org/resource/nanopub/NP855842.RAISvcOuyR5BPzUOW-cMpy985U-9v_60wLGg3gbFwEYTo130_head
http://rdf.disgenet.org/resource/nanopub/NP855842.RAISvcOuyR5BPzUOW-cMpy985U-9v_60wLGg3gbFwEYTo
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP855842.RAISvcOuyR5BPzUOW-cMpy985U-9v_60wLGg3gbFwEYTo130_assertion
http://rdf.disgenet.org/resource/nanopub/NP855842.RAISvcOuyR5BPzUOW-cMpy985U-9v_60wLGg3gbFwEYTo
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP855842.RAISvcOuyR5BPzUOW-cMpy985U-9v_60wLGg3gbFwEYTo130_provenance
http://rdf.disgenet.org/resource/nanopub/NP855842.RAISvcOuyR5BPzUOW-cMpy985U-9v_60wLGg3gbFwEYTo
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP855842.RAISvcOuyR5BPzUOW-cMpy985U-9v_60wLGg3gbFwEYTo130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP855842.RAISvcOuyR5BPzUOW-cMpy985U-9v_60wLGg3gbFwEYTo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP855842.RAISvcOuyR5BPzUOW-cMpy985U-9v_60wLGg3gbFwEYTo130_assertion
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Assertion
http://rdf.disgenet.org/resource/nanopub/NP855842.RAISvcOuyR5BPzUOW-cMpy985U-9v_60wLGg3gbFwEYTo130_provenance
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Provenance
http://rdf.disgenet.org/resource/nanopub/NP855842.RAISvcOuyR5BPzUOW-cMpy985U-9v_60wLGg3gbFwEYTo130_publicationInfo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#PublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP855842.RAISvcOuyR5BPzUOW-cMpy985U-9v_60wLGg3gbFwEYTo130_assertion
http://identifiers.org/ncbigene/10913
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/C0162359
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/DGNa07a7fab0fceee9aab2a74a9b1e6c7c9
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/10913
http://rdf.disgenet.org/resource/gda/DGNa07a7fab0fceee9aab2a74a9b1e6c7c9
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0162359
http://rdf.disgenet.org/resource/gda/DGNa07a7fab0fceee9aab2a74a9b1e6c7c9
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001121
http://rdf.disgenet.org/resource/nanopub/NP855842.RAISvcOuyR5BPzUOW-cMpy985U-9v_60wLGg3gbFwEYTo130_provenance
http://rdf.disgenet.org/resource/nanopub/NP855842.RAISvcOuyR5BPzUOW-cMpy985U-9v_60wLGg3gbFwEYTo130_assertion
http://purl.org/dc/terms/description
[The history and the lessons learned from hypohidrotic ectodermal dysplasia (HED) may serve as an example for the unraveling of the cause and pathogenesis of other ectodermal dysplasia syndromes by demonstrating that phenotypically identical syndromes (HED) can be caused by mutations in different genes (EDA, EDAR, EDARADD), that mutations in the same gene (EDA) can lead to different phenotypes (HED and selective tooth agenesis) and that mutations in genes further downstream in the same signaling pathway (NEMO) may modify the phenotype quite profoundly (incontinentia pigmenti (IP) and HED with immunodeficiency).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP855842.RAISvcOuyR5BPzUOW-cMpy985U-9v_60wLGg3gbFwEYTo130_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/NP855842.RAISvcOuyR5BPzUOW-cMpy985U-9v_60wLGg3gbFwEYTo130_assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/19504606
http://rdf.disgenet.org/resource/nanopub/NP855842.RAISvcOuyR5BPzUOW-cMpy985U-9v_60wLGg3gbFwEYTo130_assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v3.0.0/void/befree-20150227
http://rdf.disgenet.org/resource/nanopub/NP855842.RAISvcOuyR5BPzUOW-cMpy985U-9v_60wLGg3gbFwEYTo130_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/NP855842.RAISvcOuyR5BPzUOW-cMpy985U-9v_60wLGg3gbFwEYTo130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP855842.RAISvcOuyR5BPzUOW-cMpy985U-9v_60wLGg3gbFwEYTo
http://purl.org/dc/terms/created
2015-08-25T14:46:19+02:00
http://rdf.disgenet.org/resource/nanopub/NP855842.RAISvcOuyR5BPzUOW-cMpy985U-9v_60wLGg3gbFwEYTo
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP855842.RAISvcOuyR5BPzUOW-cMpy985U-9v_60wLGg3gbFwEYTo
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v3.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP855842.RAISvcOuyR5BPzUOW-cMpy985U-9v_60wLGg3gbFwEYTo
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP855842.RAISvcOuyR5BPzUOW-cMpy985U-9v_60wLGg3gbFwEYTo
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP855842.RAISvcOuyR5BPzUOW-cMpy985U-9v_60wLGg3gbFwEYTo
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP855842.RAISvcOuyR5BPzUOW-cMpy985U-9v_60wLGg3gbFwEYTo
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP855842.RAISvcOuyR5BPzUOW-cMpy985U-9v_60wLGg3gbFwEYTo
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP855842.RAISvcOuyR5BPzUOW-cMpy985U-9v_60wLGg3gbFwEYTo
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP855842.RAISvcOuyR5BPzUOW-cMpy985U-9v_60wLGg3gbFwEYTo
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP855842.RAISvcOuyR5BPzUOW-cMpy985U-9v_60wLGg3gbFwEYTo
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP855842.RAISvcOuyR5BPzUOW-cMpy985U-9v_60wLGg3gbFwEYTo
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