Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP310506.RA6iA0Z5LWuisrX-crGEgm66tIsVWBRWUpEVU67HU-aIo130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP310506.RA6iA0Z5LWuisrX-crGEgm66tIsVWBRWUpEVU67HU-aIo130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP310506.RA6iA0Z5LWuisrX-crGEgm66tIsVWBRWUpEVU67HU-aIo130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP310506.RA6iA0Z5LWuisrX-crGEgm66tIsVWBRWUpEVU67HU-aIo130_provenance.
- NP310506.RA6iA0Z5LWuisrX-crGEgm66tIsVWBRWUpEVU67HU-aIo130_assertion description "[Hypotrichosis with juvenile macular dystrophy (HJMD; OMIM 601553) is a rare autosomal recessive disorder characterized by hypotrichosis with short scalp hair and progressive macular dystrophy leading to blindness between the second and the fourth decades of life.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP310506.RA6iA0Z5LWuisrX-crGEgm66tIsVWBRWUpEVU67HU-aIo130_provenance.
- NP310506.RA6iA0Z5LWuisrX-crGEgm66tIsVWBRWUpEVU67HU-aIo130_assertion evidence source_evidence_literature NP310506.RA6iA0Z5LWuisrX-crGEgm66tIsVWBRWUpEVU67HU-aIo130_provenance.
- NP310506.RA6iA0Z5LWuisrX-crGEgm66tIsVWBRWUpEVU67HU-aIo130_assertion SIO_000772 20203473 NP310506.RA6iA0Z5LWuisrX-crGEgm66tIsVWBRWUpEVU67HU-aIo130_provenance.
- NP310506.RA6iA0Z5LWuisrX-crGEgm66tIsVWBRWUpEVU67HU-aIo130_assertion wasDerivedFrom befree-20140225 NP310506.RA6iA0Z5LWuisrX-crGEgm66tIsVWBRWUpEVU67HU-aIo130_provenance.
- NP310506.RA6iA0Z5LWuisrX-crGEgm66tIsVWBRWUpEVU67HU-aIo130_assertion wasGeneratedBy ECO_0000203 NP310506.RA6iA0Z5LWuisrX-crGEgm66tIsVWBRWUpEVU67HU-aIo130_provenance.
- befree-20140225 importedOn "2014-02-25" NP310506.RA6iA0Z5LWuisrX-crGEgm66tIsVWBRWUpEVU67HU-aIo130_provenance.