http://rdf.disgenet.org/resource/nanopub/NP1234457.RAxuv1o6oKB60-jXdRfVfBcEo8c5obP0CLnohAMxTwChI#head http://rdf.disgenet.org/resource/nanopub/NP1234457.RAxuv1o6oKB60-jXdRfVfBcEo8c5obP0CLnohAMxTwChI http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1234457.RAxuv1o6oKB60-jXdRfVfBcEo8c5obP0CLnohAMxTwChI#assertion http://rdf.disgenet.org/resource/nanopub/NP1234457.RAxuv1o6oKB60-jXdRfVfBcEo8c5obP0CLnohAMxTwChI http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1234457.RAxuv1o6oKB60-jXdRfVfBcEo8c5obP0CLnohAMxTwChI#provenance http://rdf.disgenet.org/resource/nanopub/NP1234457.RAxuv1o6oKB60-jXdRfVfBcEo8c5obP0CLnohAMxTwChI http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1234457.RAxuv1o6oKB60-jXdRfVfBcEo8c5obP0CLnohAMxTwChI#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1234457.RAxuv1o6oKB60-jXdRfVfBcEo8c5obP0CLnohAMxTwChI http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1234457.RAxuv1o6oKB60-jXdRfVfBcEo8c5obP0CLnohAMxTwChI#assertion http://rdf.disgenet.org/resource/gda/DGN4045d8ec9ad25ae0c08f2846fe15751c http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/10913 http://rdf.disgenet.org/resource/gda/DGN4045d8ec9ad25ae0c08f2846fe15751c http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C3888065 http://rdf.disgenet.org/resource/gda/DGN4045d8ec9ad25ae0c08f2846fe15751c http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP1234457.RAxuv1o6oKB60-jXdRfVfBcEo8c5obP0CLnohAMxTwChI#provenance http://rdf.disgenet.org/resource/nanopub/NP1234457.RAxuv1o6oKB60-jXdRfVfBcEo8c5obP0CLnohAMxTwChI#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/NP1234457.RAxuv1o6oKB60-jXdRfVfBcEo8c5obP0CLnohAMxTwChI#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/NP1234457.RAxuv1o6oKB60-jXdRfVfBcEo8c5obP0CLnohAMxTwChI#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/19504606 http://rdf.disgenet.org/resource/nanopub/NP1234457.RAxuv1o6oKB60-jXdRfVfBcEo8c5obP0CLnohAMxTwChI#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP1234457.RAxuv1o6oKB60-jXdRfVfBcEo8c5obP0CLnohAMxTwChI#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/NP1234457.RAxuv1o6oKB60-jXdRfVfBcEo8c5obP0CLnohAMxTwChI#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1234457.RAxuv1o6oKB60-jXdRfVfBcEo8c5obP0CLnohAMxTwChI http://purl.org/dc/terms/created 2017-10-17T13:18:03+02:00 http://rdf.disgenet.org/resource/nanopub/NP1234457.RAxuv1o6oKB60-jXdRfVfBcEo8c5obP0CLnohAMxTwChI http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1234457.RAxuv1o6oKB60-jXdRfVfBcEo8c5obP0CLnohAMxTwChI http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1234457.RAxuv1o6oKB60-jXdRfVfBcEo8c5obP0CLnohAMxTwChI http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1234457.RAxuv1o6oKB60-jXdRfVfBcEo8c5obP0CLnohAMxTwChI http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1234457.RAxuv1o6oKB60-jXdRfVfBcEo8c5obP0CLnohAMxTwChI http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1234457.RAxuv1o6oKB60-jXdRfVfBcEo8c5obP0CLnohAMxTwChI http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1234457.RAxuv1o6oKB60-jXdRfVfBcEo8c5obP0CLnohAMxTwChI http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1234457.RAxuv1o6oKB60-jXdRfVfBcEo8c5obP0CLnohAMxTwChI http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1234457.RAxuv1o6oKB60-jXdRfVfBcEo8c5obP0CLnohAMxTwChI http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1234457.RAxuv1o6oKB60-jXdRfVfBcEo8c5obP0CLnohAMxTwChI http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1234457.RAxuv1o6oKB60-jXdRfVfBcEo8c5obP0CLnohAMxTwChI 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