http://rdf.disgenet.org/resource/nanopub/NP1089448.RAvc-iS9YuG2w0e5Sc6h5-3bfppXOihaEL0EKhUI_H2L8#head
http://rdf.disgenet.org/resource/nanopub/NP1089448.RAvc-iS9YuG2w0e5Sc6h5-3bfppXOihaEL0EKhUI_H2L8
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP1089448.RAvc-iS9YuG2w0e5Sc6h5-3bfppXOihaEL0EKhUI_H2L8#assertion
http://rdf.disgenet.org/resource/nanopub/NP1089448.RAvc-iS9YuG2w0e5Sc6h5-3bfppXOihaEL0EKhUI_H2L8
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP1089448.RAvc-iS9YuG2w0e5Sc6h5-3bfppXOihaEL0EKhUI_H2L8#provenance
http://rdf.disgenet.org/resource/nanopub/NP1089448.RAvc-iS9YuG2w0e5Sc6h5-3bfppXOihaEL0EKhUI_H2L8
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1089448.RAvc-iS9YuG2w0e5Sc6h5-3bfppXOihaEL0EKhUI_H2L8#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1089448.RAvc-iS9YuG2w0e5Sc6h5-3bfppXOihaEL0EKhUI_H2L8
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP1089448.RAvc-iS9YuG2w0e5Sc6h5-3bfppXOihaEL0EKhUI_H2L8#assertion
http://rdf.disgenet.org/resource/gda/DGN8fcc65739cddc39c97f7228033bf6c04
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/7319
http://rdf.disgenet.org/resource/gda/DGN8fcc65739cddc39c97f7228033bf6c04
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0024433
http://rdf.disgenet.org/resource/gda/DGN8fcc65739cddc39c97f7228033bf6c04
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP1089448.RAvc-iS9YuG2w0e5Sc6h5-3bfppXOihaEL0EKhUI_H2L8#provenance
http://rdf.disgenet.org/resource/nanopub/NP1089448.RAvc-iS9YuG2w0e5Sc6h5-3bfppXOihaEL0EKhUI_H2L8#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/NP1089448.RAvc-iS9YuG2w0e5Sc6h5-3bfppXOihaEL0EKhUI_H2L8#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/NP1089448.RAvc-iS9YuG2w0e5Sc6h5-3bfppXOihaEL0EKhUI_H2L8#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/24053514
http://rdf.disgenet.org/resource/nanopub/NP1089448.RAvc-iS9YuG2w0e5Sc6h5-3bfppXOihaEL0EKhUI_H2L8#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP1089448.RAvc-iS9YuG2w0e5Sc6h5-3bfppXOihaEL0EKhUI_H2L8#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/NP1089448.RAvc-iS9YuG2w0e5Sc6h5-3bfppXOihaEL0EKhUI_H2L8#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1089448.RAvc-iS9YuG2w0e5Sc6h5-3bfppXOihaEL0EKhUI_H2L8
http://purl.org/dc/terms/created
2017-10-17T13:17:08+02:00
http://rdf.disgenet.org/resource/nanopub/NP1089448.RAvc-iS9YuG2w0e5Sc6h5-3bfppXOihaEL0EKhUI_H2L8
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP1089448.RAvc-iS9YuG2w0e5Sc6h5-3bfppXOihaEL0EKhUI_H2L8
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP1089448.RAvc-iS9YuG2w0e5Sc6h5-3bfppXOihaEL0EKhUI_H2L8
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP1089448.RAvc-iS9YuG2w0e5Sc6h5-3bfppXOihaEL0EKhUI_H2L8
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP1089448.RAvc-iS9YuG2w0e5Sc6h5-3bfppXOihaEL0EKhUI_H2L8
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP1089448.RAvc-iS9YuG2w0e5Sc6h5-3bfppXOihaEL0EKhUI_H2L8
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP1089448.RAvc-iS9YuG2w0e5Sc6h5-3bfppXOihaEL0EKhUI_H2L8
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP1089448.RAvc-iS9YuG2w0e5Sc6h5-3bfppXOihaEL0EKhUI_H2L8
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1089448.RAvc-iS9YuG2w0e5Sc6h5-3bfppXOihaEL0EKhUI_H2L8
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP1089448.RAvc-iS9YuG2w0e5Sc6h5-3bfppXOihaEL0EKhUI_H2L8
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1089448.RAvc-iS9YuG2w0e5Sc6h5-3bfppXOihaEL0EKhUI_H2L8
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