Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP425315.RALiildKHWEIXFT-0G9txS9IuD5HZ3CPV6S9efGbfog5k130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP425315.RALiildKHWEIXFT-0G9txS9IuD5HZ3CPV6S9efGbfog5k130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP425315.RALiildKHWEIXFT-0G9txS9IuD5HZ3CPV6S9efGbfog5k130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP425315.RALiildKHWEIXFT-0G9txS9IuD5HZ3CPV6S9efGbfog5k130_provenance.
- befree-2016 importedOn "2016-02-19" NP425315.RALiildKHWEIXFT-0G9txS9IuD5HZ3CPV6S9efGbfog5k130_provenance.
- NP425315.RALiildKHWEIXFT-0G9txS9IuD5HZ3CPV6S9efGbfog5k130_assertion wasGeneratedBy ECO_0000203 NP425315.RALiildKHWEIXFT-0G9txS9IuD5HZ3CPV6S9efGbfog5k130_provenance.
- NP425315.RALiildKHWEIXFT-0G9txS9IuD5HZ3CPV6S9efGbfog5k130_assertion wasDerivedFrom befree-2016 NP425315.RALiildKHWEIXFT-0G9txS9IuD5HZ3CPV6S9efGbfog5k130_provenance.
- NP425315.RALiildKHWEIXFT-0G9txS9IuD5HZ3CPV6S9efGbfog5k130_assertion SIO_000772 14685826 NP425315.RALiildKHWEIXFT-0G9txS9IuD5HZ3CPV6S9efGbfog5k130_provenance.
- NP425315.RALiildKHWEIXFT-0G9txS9IuD5HZ3CPV6S9efGbfog5k130_assertion evidence source_evidence_literature NP425315.RALiildKHWEIXFT-0G9txS9IuD5HZ3CPV6S9efGbfog5k130_provenance.
- NP425315.RALiildKHWEIXFT-0G9txS9IuD5HZ3CPV6S9efGbfog5k130_assertion description "[Alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency (Schindler/Kanzaki disease) is a clinically and pathologically heterogeneous genetic disease with a wide spectrum including an early onset neuroaxonal dystrophy (Schindler disease) and late onset angiokeratoma corporis diffusum (Kanzaki disease).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP425315.RALiildKHWEIXFT-0G9txS9IuD5HZ3CPV6S9efGbfog5k130_provenance.