Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP820977.RAzlmCaK99Pl7-CyEbIefQO6D4_TihbboFraJ-DvTze2U130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP820977.RAzlmCaK99Pl7-CyEbIefQO6D4_TihbboFraJ-DvTze2U130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP820977.RAzlmCaK99Pl7-CyEbIefQO6D4_TihbboFraJ-DvTze2U130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP820977.RAzlmCaK99Pl7-CyEbIefQO6D4_TihbboFraJ-DvTze2U130_provenance.
- NP820977.RAzlmCaK99Pl7-CyEbIefQO6D4_TihbboFraJ-DvTze2U130_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." NP820977.RAzlmCaK99Pl7-CyEbIefQO6D4_TihbboFraJ-DvTze2U130_provenance.
- NP820977.RAzlmCaK99Pl7-CyEbIefQO6D4_TihbboFraJ-DvTze2U130_assertion evidence source_evidence_literature NP820977.RAzlmCaK99Pl7-CyEbIefQO6D4_TihbboFraJ-DvTze2U130_provenance.
- NP820977.RAzlmCaK99Pl7-CyEbIefQO6D4_TihbboFraJ-DvTze2U130_assertion SIO_000772 20573681 NP820977.RAzlmCaK99Pl7-CyEbIefQO6D4_TihbboFraJ-DvTze2U130_provenance.
- NP820977.RAzlmCaK99Pl7-CyEbIefQO6D4_TihbboFraJ-DvTze2U130_assertion wasDerivedFrom befree-2016 NP820977.RAzlmCaK99Pl7-CyEbIefQO6D4_TihbboFraJ-DvTze2U130_provenance.
- NP820977.RAzlmCaK99Pl7-CyEbIefQO6D4_TihbboFraJ-DvTze2U130_assertion wasGeneratedBy ECO_0000203 NP820977.RAzlmCaK99Pl7-CyEbIefQO6D4_TihbboFraJ-DvTze2U130_provenance.
- befree-2016 importedOn "2016-02-19" NP820977.RAzlmCaK99Pl7-CyEbIefQO6D4_TihbboFraJ-DvTze2U130_provenance.