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- source_evidence_literature type ECO_0000212 NP972654.RAMWv4TleeaKdZEi8qDkYgB0YTAST1luv7pgJSd4LjAQg130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP972654.RAMWv4TleeaKdZEi8qDkYgB0YTAST1luv7pgJSd4LjAQg130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP972654.RAMWv4TleeaKdZEi8qDkYgB0YTAST1luv7pgJSd4LjAQg130_provenance.
- NP972654.RAMWv4TleeaKdZEi8qDkYgB0YTAST1luv7pgJSd4LjAQg130_assertion description "[Important advances made in the past year have included identification of KCNJ5 potassium channel mutations in the pathogenesis of both aldosterone-producing adenomas and familial hyperaldosteronism type III; characterization of phosphodiesterase 11A as a modifier of phenotype in Carney complex caused by protein kinase, cAMP-dependent, regulatory subunit, type-I mutations; the finding of 11?-hydroxysteroid dehydrogenase type I mutations as a novel mechanism for cortisone reductase deficiency; and demonstration of potential mortality benefit in pursuing comprehensive presymptomatic screening for patients with Li-Fraumeni syndrome, including possible reduction in risks associated with adrenocortical carcinoma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP972654.RAMWv4TleeaKdZEi8qDkYgB0YTAST1luv7pgJSd4LjAQg130_provenance.
- NP972654.RAMWv4TleeaKdZEi8qDkYgB0YTAST1luv7pgJSd4LjAQg130_assertion evidence source_evidence_literature NP972654.RAMWv4TleeaKdZEi8qDkYgB0YTAST1luv7pgJSd4LjAQg130_provenance.
- NP972654.RAMWv4TleeaKdZEi8qDkYgB0YTAST1luv7pgJSd4LjAQg130_assertion SIO_000772 22476103 NP972654.RAMWv4TleeaKdZEi8qDkYgB0YTAST1luv7pgJSd4LjAQg130_provenance.
- NP972654.RAMWv4TleeaKdZEi8qDkYgB0YTAST1luv7pgJSd4LjAQg130_assertion wasDerivedFrom befree-2016 NP972654.RAMWv4TleeaKdZEi8qDkYgB0YTAST1luv7pgJSd4LjAQg130_provenance.
- NP972654.RAMWv4TleeaKdZEi8qDkYgB0YTAST1luv7pgJSd4LjAQg130_assertion wasGeneratedBy ECO_0000203 NP972654.RAMWv4TleeaKdZEi8qDkYgB0YTAST1luv7pgJSd4LjAQg130_provenance.
- befree-2016 importedOn "2016-02-19" NP972654.RAMWv4TleeaKdZEi8qDkYgB0YTAST1luv7pgJSd4LjAQg130_provenance.