http://rdf.disgenet.org/resource/nanopub/NP664410.RAPLIc810esWnXqYJnnpf0KGnaSiq6Pzn_ouuckuxHMO0
type: Nanopublication
created: 2016-05-13T12:46:46+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

http://rdf.disgenet.org/resource/nanopub/NP664410.RAPLIc810esWnXqYJnnpf0KGnaSiq6Pzn_ouuckuxHMO0130_assertion
type: Assertion
description: [Mutations in human coagulation factor IX cause an X-linked bleeding disorder Hemophilia B, which can be classified as severe, moderately severe and mild based on the plasma levels of factor IX among affected individuals with respect to normal factor IX activity assayed in the patients' plasma (<1%, 2-5%, 6-30%, respectively).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/18393396
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