Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP984662.RA3_ulrDqmgjsKAI_Q9NytYhV-1WKJULcjBT4z7RNtods130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP984662.RA3_ulrDqmgjsKAI_Q9NytYhV-1WKJULcjBT4z7RNtods130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP984662.RA3_ulrDqmgjsKAI_Q9NytYhV-1WKJULcjBT4z7RNtods130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP984662.RA3_ulrDqmgjsKAI_Q9NytYhV-1WKJULcjBT4z7RNtods130_provenance.
- befree-2016 importedOn "2016-02-19" NP984662.RA3_ulrDqmgjsKAI_Q9NytYhV-1WKJULcjBT4z7RNtods130_provenance.
- NP984662.RA3_ulrDqmgjsKAI_Q9NytYhV-1WKJULcjBT4z7RNtods130_assertion wasGeneratedBy ECO_0000203 NP984662.RA3_ulrDqmgjsKAI_Q9NytYhV-1WKJULcjBT4z7RNtods130_provenance.
- NP984662.RA3_ulrDqmgjsKAI_Q9NytYhV-1WKJULcjBT4z7RNtods130_assertion wasDerivedFrom befree-2016 NP984662.RA3_ulrDqmgjsKAI_Q9NytYhV-1WKJULcjBT4z7RNtods130_provenance.
- NP984662.RA3_ulrDqmgjsKAI_Q9NytYhV-1WKJULcjBT4z7RNtods130_assertion SIO_000772 22621957 NP984662.RA3_ulrDqmgjsKAI_Q9NytYhV-1WKJULcjBT4z7RNtods130_provenance.
- NP984662.RA3_ulrDqmgjsKAI_Q9NytYhV-1WKJULcjBT4z7RNtods130_assertion evidence source_evidence_literature NP984662.RA3_ulrDqmgjsKAI_Q9NytYhV-1WKJULcjBT4z7RNtods130_provenance.
- NP984662.RA3_ulrDqmgjsKAI_Q9NytYhV-1WKJULcjBT4z7RNtods130_assertion description "[Mutations in the SP110 gene result in infantile onset of the autosomal recessive primary immunodeficiency disease veno-occlusive disease with immunodeficiency syndrome (VODI), which is characterized by hypogammaglobulinemia, T-cell dysfunction, and a high frequency of hepatic veno-occlusive disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP984662.RA3_ulrDqmgjsKAI_Q9NytYhV-1WKJULcjBT4z7RNtods130_provenance.