http://rdf.disgenet.org/resource/nanopub/NP1004717.RAGX2O9bSc-UgC5kbBu0Ut_jrtoWzSMbA5PznpzlNGkBA130_head
http://rdf.disgenet.org/resource/nanopub/NP1004717.RAGX2O9bSc-UgC5kbBu0Ut_jrtoWzSMbA5PznpzlNGkBA
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP1004717.RAGX2O9bSc-UgC5kbBu0Ut_jrtoWzSMbA5PznpzlNGkBA130_assertion
http://rdf.disgenet.org/resource/nanopub/NP1004717.RAGX2O9bSc-UgC5kbBu0Ut_jrtoWzSMbA5PznpzlNGkBA
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP1004717.RAGX2O9bSc-UgC5kbBu0Ut_jrtoWzSMbA5PznpzlNGkBA130_provenance
http://rdf.disgenet.org/resource/nanopub/NP1004717.RAGX2O9bSc-UgC5kbBu0Ut_jrtoWzSMbA5PznpzlNGkBA
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1004717.RAGX2O9bSc-UgC5kbBu0Ut_jrtoWzSMbA5PznpzlNGkBA130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1004717.RAGX2O9bSc-UgC5kbBu0Ut_jrtoWzSMbA5PznpzlNGkBA
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP1004717.RAGX2O9bSc-UgC5kbBu0Ut_jrtoWzSMbA5PznpzlNGkBA130_assertion
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Assertion
http://rdf.disgenet.org/resource/nanopub/NP1004717.RAGX2O9bSc-UgC5kbBu0Ut_jrtoWzSMbA5PznpzlNGkBA130_provenance
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Provenance
http://rdf.disgenet.org/resource/nanopub/NP1004717.RAGX2O9bSc-UgC5kbBu0Ut_jrtoWzSMbA5PznpzlNGkBA130_publicationInfo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#PublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1004717.RAGX2O9bSc-UgC5kbBu0Ut_jrtoWzSMbA5PznpzlNGkBA130_assertion
http://identifiers.org/ncbigene/124583
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/C0432242
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/DGN1accdf2759adcaebdb53ae891aad3d90
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/124583
http://rdf.disgenet.org/resource/gda/DGN1accdf2759adcaebdb53ae891aad3d90
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0432242
http://rdf.disgenet.org/resource/gda/DGN1accdf2759adcaebdb53ae891aad3d90
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001121
http://rdf.disgenet.org/resource/nanopub/NP1004717.RAGX2O9bSc-UgC5kbBu0Ut_jrtoWzSMbA5PznpzlNGkBA130_provenance
http://rdf.disgenet.org/resource/nanopub/NP1004717.RAGX2O9bSc-UgC5kbBu0Ut_jrtoWzSMbA5PznpzlNGkBA130_assertion
http://purl.org/dc/terms/description
[Catel-Manzke syndrome has overlapping features with Desbuquois dysplasia type 1 due to CANT1 (calcium-activated nucleotidase 1) mutations and also with chondrodysplasia with joint dislocations, gPAPP type due to IMPAD1 (Inositol Monophosphatase Domain containing 1) mutations recently reported in four patients, all characterized by short stature, joint dislocations, brachydactyly and cleft palate.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP1004717.RAGX2O9bSc-UgC5kbBu0Ut_jrtoWzSMbA5PznpzlNGkBA130_assertion
http://purl.org/ontology/wi/core#evidence
http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature
http://rdf.disgenet.org/resource/nanopub/NP1004717.RAGX2O9bSc-UgC5kbBu0Ut_jrtoWzSMbA5PznpzlNGkBA130_assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/22887726
http://rdf.disgenet.org/resource/nanopub/NP1004717.RAGX2O9bSc-UgC5kbBu0Ut_jrtoWzSMbA5PznpzlNGkBA130_assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v4.0.0/void/befree-2016
http://rdf.disgenet.org/resource/nanopub/NP1004717.RAGX2O9bSc-UgC5kbBu0Ut_jrtoWzSMbA5PznpzlNGkBA130_assertion
http://www.w3.org/ns/prov#wasGeneratedBy
http://purl.obolibrary.org/obo/ECO_0000203
http://rdf.disgenet.org/v4.0.0/void/befree-2016
http://purl.org/pav/importedOn
2016-02-19
http://rdf.disgenet.org/v4.0.0/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/v4.0.0/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/v4.0.0/void/source_evidence_literature
http://www.w3.org/2000/01/rdf-schema#label
DisGeNET evidence - LITERATURE
http://rdf.disgenet.org/resource/nanopub/NP1004717.RAGX2O9bSc-UgC5kbBu0Ut_jrtoWzSMbA5PznpzlNGkBA130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1004717.RAGX2O9bSc-UgC5kbBu0Ut_jrtoWzSMbA5PznpzlNGkBA
http://purl.org/dc/terms/created
2016-05-13T12:49:21+02:00
http://rdf.disgenet.org/resource/nanopub/NP1004717.RAGX2O9bSc-UgC5kbBu0Ut_jrtoWzSMbA5PznpzlNGkBA
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP1004717.RAGX2O9bSc-UgC5kbBu0Ut_jrtoWzSMbA5PznpzlNGkBA
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v4.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP1004717.RAGX2O9bSc-UgC5kbBu0Ut_jrtoWzSMbA5PznpzlNGkBA
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP1004717.RAGX2O9bSc-UgC5kbBu0Ut_jrtoWzSMbA5PznpzlNGkBA
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP1004717.RAGX2O9bSc-UgC5kbBu0Ut_jrtoWzSMbA5PznpzlNGkBA
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP1004717.RAGX2O9bSc-UgC5kbBu0Ut_jrtoWzSMbA5PznpzlNGkBA
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP1004717.RAGX2O9bSc-UgC5kbBu0Ut_jrtoWzSMbA5PznpzlNGkBA
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP1004717.RAGX2O9bSc-UgC5kbBu0Ut_jrtoWzSMbA5PznpzlNGkBA
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1004717.RAGX2O9bSc-UgC5kbBu0Ut_jrtoWzSMbA5PznpzlNGkBA
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP1004717.RAGX2O9bSc-UgC5kbBu0Ut_jrtoWzSMbA5PznpzlNGkBA
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1004717.RAGX2O9bSc-UgC5kbBu0Ut_jrtoWzSMbA5PznpzlNGkBA
http://purl.org/pav/version
v4.0.0.0
http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf
http://purl.org/pav/version
v4.0.0