NP1041839.RAgIjaq-DYmWCpldqmTgZzK-2HQ-euqiDTOOuiMs-VMNk
has assertion: NP1041839.RAgIjaq-DYmWCpldqmTgZzK-2HQ-euqiDTOOuiMs-VMNk130 assertion
has provenance: NP1041839.RAgIjaq-DYmWCpldqmTgZzK-2HQ-euqiDTOOuiMs-VMNk130 provenance
has publication info: NP1041839.RAgIjaq-DYmWCpldqmTgZzK-2HQ-euqiDTOOuiMs-VMNk130 publicationInfo
type: Nanopublication
created: 2016-05-13T12:49:38+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: v4.0.0.0

NP1041839.RAgIjaq-DYmWCpldqmTgZzK-2HQ-euqiDTOOuiMs-VMNk130 assertion
type: Assertion
description: [Mutations in NR5A1 were first described in patients with primary adrenal insufficiency and 46,XY disorders of sexual development and later also in men with hypospadias, bilateral anorchia and micropenis and women with primary ovarian insufficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/23299922
was generated by: ECO_0000203

befree-2016
imported on: 2016-02-19

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

disgenetv3.0rdf
version: v4.0.0