http://rdf.disgenet.org/resource/nanopub/NP548281.RA--NlKwGPB5XTLtesjZLh2IZdl_3z0yKwq4xzPUhIhBQ
type: Nanopublication
created: 2015-08-25T14:43:04+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v3.0.0.0

http://rdf.disgenet.org/resource/nanopub/NP548281.RA--NlKwGPB5XTLtesjZLh2IZdl_3z0yKwq4xzPUhIhBQ130_assertion
type: Assertion
description: [This would be similar to the clinical findings in familial glucocorticoid deficiency type 1, an autosomal recessive condition due to inactivating mutations of the adrenal receptor for ACTH, also known as the melanocortin 2 receptor (MC2R).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/19931309
was generated by: ECO_0000203

befree-20150227
imported on: 2015-02-27

DisGeNET evidence - LITERATURE
type: ECO_0000212
comment: Gene-disease associations inferred from text-mining the literature.

disgenetv3.0rdf
version: v3.0.0