http://rdf.disgenet.org/resource/nanopub/NP1311024.RAsWGIOLeSICY4lWB3NErBcefbpP4C-7QxsTtBubBH544#head http://rdf.disgenet.org/resource/nanopub/NP1311024.RAsWGIOLeSICY4lWB3NErBcefbpP4C-7QxsTtBubBH544 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1311024.RAsWGIOLeSICY4lWB3NErBcefbpP4C-7QxsTtBubBH544#assertion http://rdf.disgenet.org/resource/nanopub/NP1311024.RAsWGIOLeSICY4lWB3NErBcefbpP4C-7QxsTtBubBH544 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1311024.RAsWGIOLeSICY4lWB3NErBcefbpP4C-7QxsTtBubBH544#provenance http://rdf.disgenet.org/resource/nanopub/NP1311024.RAsWGIOLeSICY4lWB3NErBcefbpP4C-7QxsTtBubBH544 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1311024.RAsWGIOLeSICY4lWB3NErBcefbpP4C-7QxsTtBubBH544#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1311024.RAsWGIOLeSICY4lWB3NErBcefbpP4C-7QxsTtBubBH544 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1311024.RAsWGIOLeSICY4lWB3NErBcefbpP4C-7QxsTtBubBH544#assertion http://rdf.disgenet.org/resource/gda/DGNa44631f351ce492212119cca4ced9e8f http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/51360 http://rdf.disgenet.org/resource/gda/DGNa44631f351ce492212119cca4ced9e8f http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C3536714 http://rdf.disgenet.org/resource/gda/DGNa44631f351ce492212119cca4ced9e8f http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP1311024.RAsWGIOLeSICY4lWB3NErBcefbpP4C-7QxsTtBubBH544#provenance http://rdf.disgenet.org/resource/nanopub/NP1311024.RAsWGIOLeSICY4lWB3NErBcefbpP4C-7QxsTtBubBH544#assertion http://purl.org/dc/terms/description [Mutations in MBTPS2 have been reported to cause a broad phenotypic spectrum of X-linked genodermatoses, including IFAP (ichthyosis follicularis; atrichia and photophobia) syndrome (OMIM 308205) with or without BRESHECK (brain anomalies, retardation of mentality and growth, ectodermal dysplasia, skeletal malformations, Hirschsprung disease, ear deformity and deafness, eye hypoplasia, cleft palate, cryptorchidism, and kidney dysplasia/hypoplasia) syndrome, keratosis follicularis spinulosa decalvans (KFSD; OMIM 308800) and an X-linked form of Olmsted syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1311024.RAsWGIOLeSICY4lWB3NErBcefbpP4C-7QxsTtBubBH544#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/NP1311024.RAsWGIOLeSICY4lWB3NErBcefbpP4C-7QxsTtBubBH544#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/24313295 http://rdf.disgenet.org/resource/nanopub/NP1311024.RAsWGIOLeSICY4lWB3NErBcefbpP4C-7QxsTtBubBH544#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP1311024.RAsWGIOLeSICY4lWB3NErBcefbpP4C-7QxsTtBubBH544#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/NP1311024.RAsWGIOLeSICY4lWB3NErBcefbpP4C-7QxsTtBubBH544#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1311024.RAsWGIOLeSICY4lWB3NErBcefbpP4C-7QxsTtBubBH544 http://purl.org/dc/terms/created 2017-10-17T13:18:31+02:00 http://rdf.disgenet.org/resource/nanopub/NP1311024.RAsWGIOLeSICY4lWB3NErBcefbpP4C-7QxsTtBubBH544 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1311024.RAsWGIOLeSICY4lWB3NErBcefbpP4C-7QxsTtBubBH544 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1311024.RAsWGIOLeSICY4lWB3NErBcefbpP4C-7QxsTtBubBH544 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1311024.RAsWGIOLeSICY4lWB3NErBcefbpP4C-7QxsTtBubBH544 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1311024.RAsWGIOLeSICY4lWB3NErBcefbpP4C-7QxsTtBubBH544 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1311024.RAsWGIOLeSICY4lWB3NErBcefbpP4C-7QxsTtBubBH544 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1311024.RAsWGIOLeSICY4lWB3NErBcefbpP4C-7QxsTtBubBH544 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1311024.RAsWGIOLeSICY4lWB3NErBcefbpP4C-7QxsTtBubBH544 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1311024.RAsWGIOLeSICY4lWB3NErBcefbpP4C-7QxsTtBubBH544 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1311024.RAsWGIOLeSICY4lWB3NErBcefbpP4C-7QxsTtBubBH544 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1311024.RAsWGIOLeSICY4lWB3NErBcefbpP4C-7QxsTtBubBH544 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