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- source_evidence_literature type ECO_0000212 NP1239016.RAtghX6wN28TlFE1IY3klabJRGj2NBbC_9BoLUY7O7Zxk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1239016.RAtghX6wN28TlFE1IY3klabJRGj2NBbC_9BoLUY7O7Zxk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1239016.RAtghX6wN28TlFE1IY3klabJRGj2NBbC_9BoLUY7O7Zxk130_provenance.
- NP1239016.RAtghX6wN28TlFE1IY3klabJRGj2NBbC_9BoLUY7O7Zxk130_assertion description "[Many apparently well clinically defined syndromes are not distinct entities, but rather clusters on a continuous spectrum, like for the PNPLA6-associated diseases, extending from Boucher-Neuhauser syndrome via Gordon Holmes syndrome to spastic ataxia and pure hereditary spastic paraplegia; (2) Muscular/cardiac presentations; (3) Skin symptoms mostly represented by syndromic (neurocutaneous) and non syndromic ichthyosis; (4) Retinal dystrophies with syndromic and non syndromic retinitis pigmentosa, Leber congenital amaurosis, cone rod dystrophy, Stargardt disease; (5) Congenital bone dysplasia and segmental overgrowth disorders with congenital lipomatosis; (6) Liver presentations characterized mainly by transient neonatal cholestatic jaundice and non alcoholic liver steatosis with hypertriglyceridemia; and (7) Renal and immune presentations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1239016.RAtghX6wN28TlFE1IY3klabJRGj2NBbC_9BoLUY7O7Zxk130_provenance.
- NP1239016.RAtghX6wN28TlFE1IY3klabJRGj2NBbC_9BoLUY7O7Zxk130_assertion evidence source_evidence_literature NP1239016.RAtghX6wN28TlFE1IY3klabJRGj2NBbC_9BoLUY7O7Zxk130_provenance.
- NP1239016.RAtghX6wN28TlFE1IY3klabJRGj2NBbC_9BoLUY7O7Zxk130_assertion SIO_000772 25413954 NP1239016.RAtghX6wN28TlFE1IY3klabJRGj2NBbC_9BoLUY7O7Zxk130_provenance.
- NP1239016.RAtghX6wN28TlFE1IY3klabJRGj2NBbC_9BoLUY7O7Zxk130_assertion wasDerivedFrom befree-2016 NP1239016.RAtghX6wN28TlFE1IY3klabJRGj2NBbC_9BoLUY7O7Zxk130_provenance.
- NP1239016.RAtghX6wN28TlFE1IY3klabJRGj2NBbC_9BoLUY7O7Zxk130_assertion wasGeneratedBy ECO_0000203 NP1239016.RAtghX6wN28TlFE1IY3klabJRGj2NBbC_9BoLUY7O7Zxk130_provenance.
- befree-2016 importedOn "2016-02-19" NP1239016.RAtghX6wN28TlFE1IY3klabJRGj2NBbC_9BoLUY7O7Zxk130_provenance.