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- source_evidence_literature type ECO_0000212 NP1247808.RAixZMGhH-zbO7xKAvX5Zd6ChDRyhSV5zSE90SXOlpotU130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1247808.RAixZMGhH-zbO7xKAvX5Zd6ChDRyhSV5zSE90SXOlpotU130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1247808.RAixZMGhH-zbO7xKAvX5Zd6ChDRyhSV5zSE90SXOlpotU130_provenance.
- NP1247808.RAixZMGhH-zbO7xKAvX5Zd6ChDRyhSV5zSE90SXOlpotU130_assertion description "[The common phenotype of nuclear receptor superfamily 5, group A, member 1 (NR5A1) gene mutations in 46,XY is gonadal dysgenesis without adrenal deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1247808.RAixZMGhH-zbO7xKAvX5Zd6ChDRyhSV5zSE90SXOlpotU130_provenance.
- NP1247808.RAixZMGhH-zbO7xKAvX5Zd6ChDRyhSV5zSE90SXOlpotU130_assertion evidence source_evidence_literature NP1247808.RAixZMGhH-zbO7xKAvX5Zd6ChDRyhSV5zSE90SXOlpotU130_provenance.
- NP1247808.RAixZMGhH-zbO7xKAvX5Zd6ChDRyhSV5zSE90SXOlpotU130_assertion SIO_000772 25502990 NP1247808.RAixZMGhH-zbO7xKAvX5Zd6ChDRyhSV5zSE90SXOlpotU130_provenance.
- NP1247808.RAixZMGhH-zbO7xKAvX5Zd6ChDRyhSV5zSE90SXOlpotU130_assertion wasDerivedFrom befree-2016 NP1247808.RAixZMGhH-zbO7xKAvX5Zd6ChDRyhSV5zSE90SXOlpotU130_provenance.
- NP1247808.RAixZMGhH-zbO7xKAvX5Zd6ChDRyhSV5zSE90SXOlpotU130_assertion wasGeneratedBy ECO_0000203 NP1247808.RAixZMGhH-zbO7xKAvX5Zd6ChDRyhSV5zSE90SXOlpotU130_provenance.
- befree-2016 importedOn "2016-02-19" NP1247808.RAixZMGhH-zbO7xKAvX5Zd6ChDRyhSV5zSE90SXOlpotU130_provenance.