http://rdf.disgenet.org/resource/nanopub/NP764586.RAKLQjGK99ZPnRRWtf3_ErQavWA4nVlZysPGhlv-RswmQ130_head
http://rdf.disgenet.org/resource/nanopub/NP764586.RAKLQjGK99ZPnRRWtf3_ErQavWA4nVlZysPGhlv-RswmQ
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP764586.RAKLQjGK99ZPnRRWtf3_ErQavWA4nVlZysPGhlv-RswmQ130_assertion
http://rdf.disgenet.org/resource/nanopub/NP764586.RAKLQjGK99ZPnRRWtf3_ErQavWA4nVlZysPGhlv-RswmQ
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP764586.RAKLQjGK99ZPnRRWtf3_ErQavWA4nVlZysPGhlv-RswmQ130_provenance
http://rdf.disgenet.org/resource/nanopub/NP764586.RAKLQjGK99ZPnRRWtf3_ErQavWA4nVlZysPGhlv-RswmQ
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP764586.RAKLQjGK99ZPnRRWtf3_ErQavWA4nVlZysPGhlv-RswmQ130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP764586.RAKLQjGK99ZPnRRWtf3_ErQavWA4nVlZysPGhlv-RswmQ
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP764586.RAKLQjGK99ZPnRRWtf3_ErQavWA4nVlZysPGhlv-RswmQ130_assertion
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Assertion
http://rdf.disgenet.org/resource/nanopub/NP764586.RAKLQjGK99ZPnRRWtf3_ErQavWA4nVlZysPGhlv-RswmQ130_provenance
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Provenance
http://rdf.disgenet.org/resource/nanopub/NP764586.RAKLQjGK99ZPnRRWtf3_ErQavWA4nVlZysPGhlv-RswmQ130_publicationInfo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#PublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP764586.RAKLQjGK99ZPnRRWtf3_ErQavWA4nVlZysPGhlv-RswmQ130_assertion
http://identifiers.org/ncbigene/7319
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/C3714756
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/DGNdfeb5314ef6cbcf5b33be6d394f16e42
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/7319
http://rdf.disgenet.org/resource/gda/DGNdfeb5314ef6cbcf5b33be6d394f16e42
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C3714756
http://rdf.disgenet.org/resource/gda/DGNdfeb5314ef6cbcf5b33be6d394f16e42
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001121
http://rdf.disgenet.org/resource/nanopub/NP764586.RAKLQjGK99ZPnRRWtf3_ErQavWA4nVlZysPGhlv-RswmQ130_provenance
http://rdf.disgenet.org/resource/nanopub/NP764586.RAKLQjGK99ZPnRRWtf3_ErQavWA4nVlZysPGhlv-RswmQ130_assertion
http://purl.org/dc/terms/description
[X-linked intellectual disability type Nascimento (MIM #300860), caused by mutations in UBE2A (MIM *312180), is characterized by craniofacial dysmorphism (synophrys, prominent supraorbital ridges, deep-set, almond-shaped eyes, depressed nasal bridge, prominent columella, hypoplastic alae nasi, and macrostomia), skin anomalies (hirsutism, myxedematous appearance, onychodystrophy), micropenis, moderate to severe intellectual disability (ID), motor delay, impaired/absent speech, and seizures.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP764586.RAKLQjGK99ZPnRRWtf3_ErQavWA4nVlZysPGhlv-RswmQ130_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/NP764586.RAKLQjGK99ZPnRRWtf3_ErQavWA4nVlZysPGhlv-RswmQ130_assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/24053514
http://rdf.disgenet.org/resource/nanopub/NP764586.RAKLQjGK99ZPnRRWtf3_ErQavWA4nVlZysPGhlv-RswmQ130_assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v3.0.0/void/befree-20150227
http://rdf.disgenet.org/resource/nanopub/NP764586.RAKLQjGK99ZPnRRWtf3_ErQavWA4nVlZysPGhlv-RswmQ130_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/NP764586.RAKLQjGK99ZPnRRWtf3_ErQavWA4nVlZysPGhlv-RswmQ130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP764586.RAKLQjGK99ZPnRRWtf3_ErQavWA4nVlZysPGhlv-RswmQ
http://purl.org/dc/terms/created
2015-08-25T14:45:21+02:00
http://rdf.disgenet.org/resource/nanopub/NP764586.RAKLQjGK99ZPnRRWtf3_ErQavWA4nVlZysPGhlv-RswmQ
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP764586.RAKLQjGK99ZPnRRWtf3_ErQavWA4nVlZysPGhlv-RswmQ
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v3.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP764586.RAKLQjGK99ZPnRRWtf3_ErQavWA4nVlZysPGhlv-RswmQ
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP764586.RAKLQjGK99ZPnRRWtf3_ErQavWA4nVlZysPGhlv-RswmQ
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP764586.RAKLQjGK99ZPnRRWtf3_ErQavWA4nVlZysPGhlv-RswmQ
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP764586.RAKLQjGK99ZPnRRWtf3_ErQavWA4nVlZysPGhlv-RswmQ
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP764586.RAKLQjGK99ZPnRRWtf3_ErQavWA4nVlZysPGhlv-RswmQ
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP764586.RAKLQjGK99ZPnRRWtf3_ErQavWA4nVlZysPGhlv-RswmQ
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP764586.RAKLQjGK99ZPnRRWtf3_ErQavWA4nVlZysPGhlv-RswmQ
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP764586.RAKLQjGK99ZPnRRWtf3_ErQavWA4nVlZysPGhlv-RswmQ
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP764586.RAKLQjGK99ZPnRRWtf3_ErQavWA4nVlZysPGhlv-RswmQ
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