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- source_evidence_literature type ECO_0000212 NP978343.RAPpPM5xSlXJ09a96jCmcTG6uP8NAbsaHDowOy64gn74Y130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP978343.RAPpPM5xSlXJ09a96jCmcTG6uP8NAbsaHDowOy64gn74Y130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP978343.RAPpPM5xSlXJ09a96jCmcTG6uP8NAbsaHDowOy64gn74Y130_provenance.
- NP978343.RAPpPM5xSlXJ09a96jCmcTG6uP8NAbsaHDowOy64gn74Y130_assertion description "[Whereas mutations in ADAMTS17 have recently been identified in autosomal recessive Weill-Marchesani-like syndrome in humans and dogs presenting with ophthalmologic, cardiac, and skeletal abnormalities, no disease associations have been described for CERS3 (ceramide synthase 3) and FLJ42289 so far.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP978343.RAPpPM5xSlXJ09a96jCmcTG6uP8NAbsaHDowOy64gn74Y130_provenance.
- NP978343.RAPpPM5xSlXJ09a96jCmcTG6uP8NAbsaHDowOy64gn74Y130_assertion evidence source_evidence_literature NP978343.RAPpPM5xSlXJ09a96jCmcTG6uP8NAbsaHDowOy64gn74Y130_provenance.
- NP978343.RAPpPM5xSlXJ09a96jCmcTG6uP8NAbsaHDowOy64gn74Y130_assertion SIO_000772 23754960 NP978343.RAPpPM5xSlXJ09a96jCmcTG6uP8NAbsaHDowOy64gn74Y130_provenance.
- NP978343.RAPpPM5xSlXJ09a96jCmcTG6uP8NAbsaHDowOy64gn74Y130_assertion wasDerivedFrom befree-20150227 NP978343.RAPpPM5xSlXJ09a96jCmcTG6uP8NAbsaHDowOy64gn74Y130_provenance.
- NP978343.RAPpPM5xSlXJ09a96jCmcTG6uP8NAbsaHDowOy64gn74Y130_assertion wasGeneratedBy ECO_0000203 NP978343.RAPpPM5xSlXJ09a96jCmcTG6uP8NAbsaHDowOy64gn74Y130_provenance.
- befree-20150227 importedOn "2015-02-27" NP978343.RAPpPM5xSlXJ09a96jCmcTG6uP8NAbsaHDowOy64gn74Y130_provenance.