Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1215939.RAgHIUuGXqS52clbNdif7-46LjPKpwiHDV98eS0b2Te2c130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1215939.RAgHIUuGXqS52clbNdif7-46LjPKpwiHDV98eS0b2Te2c130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1215939.RAgHIUuGXqS52clbNdif7-46LjPKpwiHDV98eS0b2Te2c130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1215939.RAgHIUuGXqS52clbNdif7-46LjPKpwiHDV98eS0b2Te2c130_provenance.
- NP1215939.RAgHIUuGXqS52clbNdif7-46LjPKpwiHDV98eS0b2Te2c130_assertion description "[Boucher-Neuh�user/Gordon Holmes syndrome (PNPLA6), PHARC syndrome (ABHD12), hereditary spastic paraplegia type 28, 54 and 56 (HSP28, DDHD1; HSP54, DDHD2; HSP56, CYP2U1), Lenz Majewski syndrome (PTDSS1), spondylometaphyseal dysplasia with cone-rod dystrophy (PCYT1A), atypical haemolytic-uremic syndrome due to DGKE deficiency (DGKE).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1215939.RAgHIUuGXqS52clbNdif7-46LjPKpwiHDV98eS0b2Te2c130_provenance.
- NP1215939.RAgHIUuGXqS52clbNdif7-46LjPKpwiHDV98eS0b2Te2c130_assertion evidence source_evidence_literature NP1215939.RAgHIUuGXqS52clbNdif7-46LjPKpwiHDV98eS0b2Te2c130_provenance.
- NP1215939.RAgHIUuGXqS52clbNdif7-46LjPKpwiHDV98eS0b2Te2c130_assertion SIO_000772 25178427 NP1215939.RAgHIUuGXqS52clbNdif7-46LjPKpwiHDV98eS0b2Te2c130_provenance.
- NP1215939.RAgHIUuGXqS52clbNdif7-46LjPKpwiHDV98eS0b2Te2c130_assertion wasDerivedFrom befree-2016 NP1215939.RAgHIUuGXqS52clbNdif7-46LjPKpwiHDV98eS0b2Te2c130_provenance.
- NP1215939.RAgHIUuGXqS52clbNdif7-46LjPKpwiHDV98eS0b2Te2c130_assertion wasGeneratedBy ECO_0000203 NP1215939.RAgHIUuGXqS52clbNdif7-46LjPKpwiHDV98eS0b2Te2c130_provenance.
- befree-2016 importedOn "2016-02-19" NP1215939.RAgHIUuGXqS52clbNdif7-46LjPKpwiHDV98eS0b2Te2c130_provenance.