Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP820972.RAvZI_m-LKoRciTS6xngangJ8JuWMq6HQBkd1faDcOPHw130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP820972.RAvZI_m-LKoRciTS6xngangJ8JuWMq6HQBkd1faDcOPHw130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP820972.RAvZI_m-LKoRciTS6xngangJ8JuWMq6HQBkd1faDcOPHw130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP820972.RAvZI_m-LKoRciTS6xngangJ8JuWMq6HQBkd1faDcOPHw130_provenance.
- NP820972.RAvZI_m-LKoRciTS6xngangJ8JuWMq6HQBkd1faDcOPHw130_assertion description "[DAX1 (for dosage-sensitive sex reversal, adrenal hypoplasia congenital critical region on the X chromosome, gene 1; also called NROB1) mutations are responsible for adrenal failure and hypogonadotropic hypogonadism in patients with adrenal hypoplasia congenita (AHC), through a loss of trans-repression of SF-1 (for steroidogenic factor-1)-mediated StAR (for steroidogenic acute regulatory protein) and LHbeta transcriptional activities and a reduction of GnRH expression.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP820972.RAvZI_m-LKoRciTS6xngangJ8JuWMq6HQBkd1faDcOPHw130_provenance.
- NP820972.RAvZI_m-LKoRciTS6xngangJ8JuWMq6HQBkd1faDcOPHw130_assertion evidence source_evidence_literature NP820972.RAvZI_m-LKoRciTS6xngangJ8JuWMq6HQBkd1faDcOPHw130_provenance.
- NP820972.RAvZI_m-LKoRciTS6xngangJ8JuWMq6HQBkd1faDcOPHw130_assertion SIO_000772 20573681 NP820972.RAvZI_m-LKoRciTS6xngangJ8JuWMq6HQBkd1faDcOPHw130_provenance.
- NP820972.RAvZI_m-LKoRciTS6xngangJ8JuWMq6HQBkd1faDcOPHw130_assertion wasDerivedFrom befree-2016 NP820972.RAvZI_m-LKoRciTS6xngangJ8JuWMq6HQBkd1faDcOPHw130_provenance.
- NP820972.RAvZI_m-LKoRciTS6xngangJ8JuWMq6HQBkd1faDcOPHw130_assertion wasGeneratedBy ECO_0000203 NP820972.RAvZI_m-LKoRciTS6xngangJ8JuWMq6HQBkd1faDcOPHw130_provenance.
- befree-2016 importedOn "2016-02-19" NP820972.RAvZI_m-LKoRciTS6xngangJ8JuWMq6HQBkd1faDcOPHw130_provenance.